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1

Bhattarai, D., N. Paudel, P. Adhikari, S. Gnyawali, and S. N. Joshi. "Unilateral retinitis pigmentosa." Nepalese Journal of Ophthalmology 7, no. 1 (September 17, 2015): 56–59. http://dx.doi.org/10.3126/nepjoph.v7i1.13171.

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Objective: To report a rare case of unilateral retinitis pigmentosa and to present the clinical features, and ¿ndings of multifocal ERG and visual field of this case.Case: A 70-year-old-female diagnosed as Retinitis Pigmentosa in right eye 7 years back, presented with further gradual painless diminution of vision in the very eye and without any similar symptoms in left eye. On examination, the findings (including multifocal ERG and visual field) suggested the features of retinitis pigmentosa in her right eye, while the other eye being unaffected.Conclusion: In this rare case, the distinct features of retinitis pigmentosa are seen only in one eye, and this can be further confirmed from multifocal ERG and visual field.
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2

Bromeo, Albert John, Sweet Jorlene Lerit, Amadeo Veloso, and Gary John Mercado. "Retinal vasoproliferative tumour secondary to retinitis pigmentosa sine pigmento." BMJ Case Reports 14, no. 5 (May 2021): e240878. http://dx.doi.org/10.1136/bcr-2020-240878.

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Retinitis pigmentosa can be associated with exudative vasculopathy in rare instances, which can manifest as retinal vasoproliferative tumours. We present the case of a 33-year-old woman previously diagnosed with retinitis pigmentosa sine pigmentosa in both eyes. She was asymptomatic and just came in for a routine follow-up eye examination. Thorough examination of the peripheral retina on the right eye revealed a dome-shaped retinal tumour with a feeder vessel and surrounding exudative changes at the superotemporal periphery, consistent with a secondary retinal vasoproliferative tumour from retinitis pigmentosa. She subsequently underwent focal laser photocoagulation of the tumour which resulted in tumour stabilisation. While exudative vasculopathy is very uncommon in retinitis pigmentosa, ophthalmologists need to be aware of its occurrence in such patients. Vision loss may occur from exudation, haemorrhage, retinal detachment and neovascularisation. A thorough examination of the peripheral retina is warranted in these cases.
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3

Aragao, Ricardo Evangelista Marrocos de, Ieda Maria Alexandre Barreira, Ariane Sa Vieira Bastos, Gustavo Jose Arruda Mendes Carneiro, and Talles Peterson Cavalcante Oria. "Unilateral retinitis pigmentosa: case report." Revista de Medicina da UFC 55, no. 2 (December 31, 2015): 54. http://dx.doi.org/10.20513/2447-6595.2015v55n2p54-58.

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Unilateral retinitis pigmentosa (URP) is a rare tapetoretinal dystrophy affecting only one eye. Criteria are necessary to make a correct diagnosis of URP: exclude all infective etiologies, check that the clinical signs of retinitis are present in the affected eye and the total absence of any signs or symptoms of retinitis pigmentosa in the fellow eye. Electroretinogram (ERG) and electro-oculogram (EOG) are useful for the correct diagnosis. In this paper we report one case.
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4

Bozic, Marija, Vujica Markovic, Ivan Marjanovic, and Vesna Maric. "Coincidence of retinitis pigmentosa and pseudoexfoliative glaucoma." Srpski arhiv za celokupno lekarstvo 145, no. 5-6 (2017): 294–95. http://dx.doi.org/10.2298/sarh160408051b.

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Introduction. This is an observational case report presenting retinitis pigmentosa associated with pseudoexfoliative glaucoma. Case outline. A 69-year-old man presented with retinitis pigmentosa. On examination, pseudoexfoliative material was detected on anterior segment structures, and intraocular pressure was 26 mmHg in the right and 24 mmHg in the left eye. The patient was commenced on topical antiglaucomatous therapy (timolol + dorzolamide twice daily, latanoprost once in the evening) to both eyes. Conclusion. To the best of our knowledge, this is the first reported case of retinitis pigmentosa associated with pseudoexfoliative glaucoma. Although rare, retinitis pigmentosa and glaucoma can occur in the same eye.
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5

Migliorini, Raffaele, Anna Maria Comberiati, Giovanni Galeoto, Manuela Fratipietro, and Loredana Arrico. "Eye Motility Alterations in Retinitis Pigmentosa." Journal of Ophthalmology 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/145468.

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Purpose. We evaluated a sample of individuals with retinitis pigmentosa (RP) with the aim of assessing the presence or absence of ocular motility (OM) disorders.Materials and Methods. We included 23 out of the 25 individuals from the sample (9 females and 14 males) with an average visual acuity of 6/10.Results. The cover test about the vertical deviation in near distance showed an r/l in 3.45% and an l/r in 6.9%. The assessment of OM showed that 39.1% of the sample had a severe hyperfunction of the IO of the right eye and a severe hyperfunction (34.5%) of the SO of the left eye; 21.8% had a moderate hypofunction of right SO with a moderate percentage of hypofunction of 17.5% for the SO of the left eye; 30.5%, however, showed a serious hypofunction of the SR of both eyes; 21.7% of the sample showed a hyperfunction in both eyes of the IR.Conclusion. This alteration, however, is not attributable to either a high refractive defect (medium-low myopia: −1 diopter±3 SD) or to a severely impaired binocular vision (visual acuity, motor fusion, and stereopsis are normal or within a range of values commonly accepted). Therefore, the disorders of OM lead to a genetic origin.
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6

Taniai, Mariko, Atsushi Mizota, Kazuyuki Ishikawa, Mitsuya Ikejiri, Emiko Adachi-Usami, Haruo Kuroki, and Masashi Yamazaki. "Retinitis pigmentosa with osteochondrodysplasia in siblings." Eye 15, no. 5 (September 2001): 669–71. http://dx.doi.org/10.1038/eye.2001.212.

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7

Dryja, Thaddeus P. "Rhodopsin and autosomal dominant retinitis pigmentosa." Eye 6, no. 1 (January 1992): 1–10. http://dx.doi.org/10.1038/eye.1992.2.

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8

Rich, Walter. "Advances in the understanding of retinitis pigmentosa." Eye 6, no. 1 (January 1992): vii. http://dx.doi.org/10.1038/eye.1992.1.

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9

Sayadi, Jihene, Alexandra Miere, Eric H. Souied, and Salomon Y. Cohen. "Type 3 Neovascularization Associated with Retinitis Pigmentosa." Case Reports in Ophthalmology 8, no. 1 (April 10, 2017): 245–49. http://dx.doi.org/10.1159/000471790.

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Purpose: To report a case of type 3 neovascular lesion in a patient with retinitis pigmentosa (RP) complicated by macular edema. Case Report: A 78-year-old man with a long follow-up for RP was referred for painless visual acuity decrease in the right eye. Best-corrected visual acuity was 20/125 in the right eye and 20/40 in the left. Fundus examination showed typical RP and macular edema in both eyes. In the right eye, spectral domain optical coherence tomography revealed a marked cystic macular edema associated with disruption of the Bruch membrane/retinal pigment epithelium complex overlying a pigmentary epithelium detachment, with a vascular structure which appeared to originate from the deep capillary plexus and to be connected with the subretinal pigment epithelium space. Optical coherence tomography angiography showed a high-flow vessel infiltrating the outer retinal layers in the deep capillary plexus segmentation, and a tuft-shaped, bright, high-flow network that seemed to be connected with the subretinal pigment epithelium space in the outer retinal layer segmentation. This presentation was consistent with an early type 3 neovascular lesion in the right eye. Conclusion: Type 3 neovascularization may be considered a possible complication of RP.
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10

Iovino, Claudio, Giamberto Casini, and Enrico Peiretti. "Bilateral noncalcified astrocytic hamartomas in retinitis pigmentosa: Multimodal imaging evaluation over 8 years of follow-up." European Journal of Ophthalmology 29, no. 5 (October 3, 2018): NP18—NP21. http://dx.doi.org/10.1177/1120672118804386.

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Purpose: To report the evolution of optic disk noncalcified astrocytic hamartomas in a patient with retinitis pigmentosa throughout 8 years of follow-up. Methods: Case report. Results: A 42-year-old white man with a diagnosis of retinitis pigmentosa was referred to our medical retinal center for the first time in 2010, for the development of a new optic nerve head lesion in the right eye. Fundus examination, fundus autofluorescence, fluorescein and green indocyanine angiography, spectral-domain optical coherence tomography were performed and confirmed the presence of a papillary noncalcified astrocytic hamartoma in the right eye. Four years later, multimodal imaging evaluation revealed in the left eye the presence of a first optic disk benign tumor, and in 2018, a second in the nasal retina, while in the right eye the sole papillary lesion increased slightly in size. Conclusions: Noncalcified astrocytic hamartomas can occur in patients with retinitis pigmentosa and can increase in size and number in time. A complete multimodal imaging evaluation is necessary to identify and classify any kind of new lesion that, as known, are associated with these group of hereditary retinal degenerations.
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11

Sorrentino, Francesco Saverio, Claudio Bonifazzi, and Paolo Perri. "The Role of the Endothelin System in the Vascular Dysregulation Involved in Retinitis Pigmentosa." Journal of Ophthalmology 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/405234.

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Retinitis pigmentosa is a clinical and genetic group of inherited retinal disorders characterized by alterations of photoreceptors and retinal pigment epithelium leading to a progressive concentric visual field restriction, which may bring about severe central vision impairment. Haemodynamic studies in patients with retinitis pigmentosa have demonstrated ocular blood flow abnormalities both in retina-choroidal and in retroocular vascular system. Moreover, several investigations have studied the augmentation of endothelin-1 plasma levels systemically in the body and locally in the eye. This might account for vasoconstriction and ischemia, typical in vascular dysregulation syndrome, which can be considered an important factor of reduction of the ocular blood flow in subjects affected by retinitis pigmentosa.
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12

Zhang, X., T. YY Lai, S. WY Chiang, P. OS Tam, D. TL Liu, C. KM Chan, C. P. Pang, C. Zhao, and L. J. Chen. "Contribution of SNRNP200 sequence variations to retinitis pigmentosa." Eye 27, no. 10 (July 26, 2013): 1204–13. http://dx.doi.org/10.1038/eye.2013.137.

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13

Langham, Maurice E., and Theresa Kramer. "Decreased choroidal blood flow associated with retinitis pigmentosa." Eye 4, no. 2 (March 1990): 374–81. http://dx.doi.org/10.1038/eye.1990.50.

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14

Goto, Hiroshi, and Naoyuki Yamakawa. "Iris Melanoma in a Patient with Retinitis Pigmentosa." Ocular Oncology and Pathology 7, no. 4 (2021): 267–71. http://dx.doi.org/10.1159/000511550.

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This report describes the histopathological findings of an iris melanoma that developed in a patient with retinitis pigmentosa (RP). A 66-year-old man was referred to our hospital with a diagnosis of iris tumor. He had a medical history of RP for over 25 years. His best corrected visual acuity at presentation was 20/20 (OD) and 20/200 (OS). Slit lamp examination revealed an iris melanocytoma in his right eye and a brown iris mass involving the pupil in his left eye. Ocular fundus examination of his right eye showed diffuse chorioretinal atrophy with attenuated retinal vessels and scattered pigment. A diagnosis of iris melanoma was made and enucleation of his left eyeball was performed. Histopathological examination of the eyeball showed an iris tumor with proliferation of spindle cells positive for Melan-A, HMB-45, and S-100 protein by immunohistochemistry. Diffuse destruction of retinal architecture was observed, with loss of outer segment and replacement by glial cells. Accumulation of melanin pigment around retinal vessels was found in peripheral retina. These histopathological findings were compatible with advanced stage of RP. This case demonstrates that iris melanoma can occur in eye with RP.
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15

Balikoglu-Yilmaz, Melike, Muhittin Taskapili, Tolga Yilmaz, and Mehmet Yasin Teke. "Optic Disc Pit with Sectorial Retinitis Pigmentosa." Case Reports in Ophthalmological Medicine 2013 (2013): 1–5. http://dx.doi.org/10.1155/2013/156023.

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Sectorial retinitis pigmentosa (RP) and optic disc pit (ODP) are rare clinical conditions. We present a 40-year-old woman with a history of mild night blindness and decreased vision in the right eye for about 5 years. Fundus examination revealed retinal pigmentary changes in the superior and inferotemporal sectors covering the macula and reduced arterial calibre and ODP at the temporal edge of the optic disc. In addition, fundus autofluorescence, spectral-domain optical coherence tomography, fluorescein angiography, and multifocal electroretinogram scans confirmed these clinical findings. Visual acuity was decreased due to an atrophic-appearing foveal lesion. No intervention was suggested because of the poor visual potential. To the best of our knowledge, the present study is the first to describe coexistent optic disc pit and sectorial RP in the superior and inferotemporal sectors covering the macula in the same eye with figures.
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16

Wang, Lijun, Jianqing Li, Chi Ren, and Peirong Lu. "A Vision-Saving Straw in a Retinitis Pigmentosa Patient." Case Reports in Ophthalmology 12, no. 2 (July 26, 2021): 684–89. http://dx.doi.org/10.1159/000512059.

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We report a case of binocular retinitis pigmentosa (RP) with completely different visual acuity between 2 eyes, which may be contributed by the presence of cilioretinal arteries (CRAs) in 1 eye. A 66-year-old female patient complained of blurred vision after binocular cataract surgeries. Examinations revealed her right eye had 20/25 central visual acuity, but the fellow eye only had light perception. Subsequent fundus photography of both eyes firmed the diagnosis of binocular RP. However, there were some significant differences in retinal vessels, which were attenuated in her left eye in contrast to several spared retinal arterioles in the right eye. Optical coherence tomography angiography showed that the spared vessels might be CRAs. Our case provides an evidence that macular blood flow may contribute to the survival of cone cells in RP.
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17

Guthrie, G., R. M. Davies, C. K. Fleming, and A. C. Browning. "YouTube as a source of information about retinitis pigmentosa." Eye 28, no. 4 (January 17, 2014): 499–500. http://dx.doi.org/10.1038/eye.2013.312.

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18

Redmond, R. M., C. A. Graham, I. W. Craig, N. C. Nevin, and D. B. Archer. "DNA analysis and recombination in X-linked retinitis pigmentosa." Eye 4, no. 1 (January 1990): 204–9. http://dx.doi.org/10.1038/eye.1990.27.

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19

Donato, Luigi, and Lucia Denaro. "Bioinformatic Analysis of a “Functional Cluster” Probably Related to Retinitis Pigmentosa." Open Bioinformatics Journal 11, no. 1 (May 23, 2018): 89–105. http://dx.doi.org/10.2174/1875036201811010089.

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Background: Retinitis pigmentosa is an eye hereditary disease caused by photoreceptor death. One of the biggest problem is represented by its genetic heterogeneity, which has not yet allowed us to found all causative genes and how known ones could influence each other, leading to retinitis etiopathogenesis. Objective: To propose the possible relation between the “functional cluster” of vision dark adaptation, made of five phototransductional genes (RCVRN, GNB1, GNGT1, GRK7 and ARRB1), and retinitis pigmentosa onset. Methods: A bioinformatic approach was exploited: the starting point was searching through online database as PubMed and EMBASE to acquire information about the state of art of these gene. This step was followed by an in-silico analysis, performed by softwares as Cytoscape and Genecards Suite Plus, articulated in three phases: I) identification of common pathways and genes involved in; II) collection of previously detected genes; III) deep analysis of intersected genes and implication into etiopathogenesis of analzyed disease. Results: The whole in-silico analysis showed that all five gene products cooperate during phototransductional activation, expecially in the dark adaptation. Interestingly, the most exciting aspect regards the direct relation with several known retinitis pigmentosa causative genes, in form of protein interactions or other pathway correlations. Conclusion: Pathway analysis permitted us to hypothesize a possible role of analyzed genes in retinitis pigmentosa etiopathogenesis, also considering the key activity of their encoded proteins. Next step will be validating our hypotesis with functional assays to ensure the real meaning of this possible association, leading to new potential retinitis pigmentosa causative genes.
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20

Chen, Hongling, Dezheng Wu, Shizhou Huang, and Futian Jiang. "Unilateral retinitis pigmentosa with amblyopia in the fellow eye." Graefe's Archive for Clinical and Experimental Ophthalmology 244, no. 12 (April 6, 2006): 1701–4. http://dx.doi.org/10.1007/s00417-006-0313-7.

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21

Demir, M. N., N. Ünlü, Z. Yalniz, M. A. Acar, and F. Örnek. "A Case of Retinal Detachment in Retinitis Pigmentosa." European Journal of Ophthalmology 17, no. 4 (July 2007): 677–79. http://dx.doi.org/10.1177/112067210701700433.

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Purpose To report case of retinitis pigmentosa in association with rhegmatogenous retinal detachment. Methods An eight year old boy complained of a sudden visual loss. The patient had night blindness, bone spicule-like hyperpigmentation, pale optic disc in both eyes, and the retina was totally detached in the right eye. Results He was initially treated with conventional scleral buckling surgery, then pars plana vitrectomy with silicone tamponade was performed and retinal reattachment was established. After the phacoemulsification combined with silicone oil removal the final visual acuity of counting fingers was obtained. Conclusions The association of retinitis pigmentosa and rhegmatogenous retinal detachment is uncommon in young patients.
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22

Oishi, A., A. Otani, M. Sasahara, M. Kurimoto, H. Nakamura, H. Kojima, and N. Yoshimura. "Retinal nerve fiber layer thickness in patients with retinitis pigmentosa." Eye 23, no. 3 (March 14, 2008): 561–66. http://dx.doi.org/10.1038/eye.2008.63.

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23

Pradhan, Chandni, Simanta Khadka, and Purushottam Joshi. "Angle Closure Glaucoma in Retinitis Pigmentosa." Case Reports in Ophthalmological Medicine 2020 (May 30, 2020): 1–6. http://dx.doi.org/10.1155/2020/6023586.

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Background. Angle closure glaucoma (ACG) whether primary or secondary lens induced has rare occurrence in cases with retinitis pigmentosa (RP). Method. Five patients with history of diminished vision, ocular pain, and nyctalopia were clinically evaluated. Four patients had unilateral presentations of circumciliary congestion, corneal edema, and high intraocular pressure (IOP), while one had bilateral presentation, respectively. Anterior chambers were shallow; fundoscopy revealed the features of RP and gonioscopy affirmed closed angles in all the cases. The management strategies were individualized based on the specific ocular condition. Result. The raised IOP were not well controlled with conventional medical treatment. Neodymium yttrium aluminium garnet laser peripheral iridotomy (LPI) was performed in two patients and in the fellow eye in other two patients as a prophylactic measure. Phacoemulsification surgery with implantation of intraocular lens (IOL) was performed in three patients, whereas phacoemulsification only without IOL and trabeculectomy performed in one patient. Among them, two patients had subluxated lens, where one was managed with capsular tension ring and the other was left aphakic, respectively. However, the vision was not improved significantly in these patients. Conclusion. RP may be associated with ACG in rare instances. In these patients, angle closure-related high IOP can have a detrimental effect on the pre-existing visual impairment. However, this can be prevented by thorough clinical examination and timely intervention in those susceptible eyes.
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24

Aloe, G., C. M. De Sanctis, C. Strafella, R. Cascella, F. Missiroli, M. Cesareo, E. Giardina, and F. Ricci. "Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa." Case Reports in Ophthalmological Medicine 2019 (July 31, 2019): 1–5. http://dx.doi.org/10.1155/2019/8547962.

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Purpose. To describe the first case of bilateral retinal angiomatous proliferation (RAP) in a patient with a variant of retinitis pigmentosa (RP). Case Report. An 85-year-old man with RP presented with visual acuity decrease and metamorphopsia in the left eye (LE). Fundus examination revealed typical signs of RP in both eyes, associated with intraretinal macular hemorrhage in the LE. Multimodal imaging, using Colour fundus Photography, Fluorescein (FA), and Indocyanine Green Angiography (ICGA) as well as Spectral-Domain Optical Coherence Tomography (SD-OCT) and Optical Coherence Tomography Angiography (OCTA), revealed a type 3 neovascular lesion in the involved eye. Genetic testing (NGS analysis) was performed to search for genetic variants correlated with the disease phenotype displayed by the patient. The patient was treated with intravitreal injections of bevacizumab, according to a fixed protocol of bimonthly injections plus a booster dose at second month. After 9 months, he was referred for visual acuity decrease and metamorphopsia in the fellow eye, where SD-OCT/OCTA showed a type 3 neovascular lesion in the right eye (RE). He was scheduled for intravitreal injections of bevacizumab. In both eyes, treatment with intravitreal bevacizumab was successful.
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Davidovic, Sofija, Sanja Jovanovic, Nikola Babic, Aleksandar Miljkovic, Desanka Grkovic, and Milica Erdevicki. "Effects of intravitreal aflibercept (Eylea) in the treatment of bilateral cystoid macular edema in retinitis pigmentosa: A case report." Medical review 72, no. 5-6 (2019): 171–75. http://dx.doi.org/10.2298/mpns1906171d.

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Introduction. The aim of the study was to evaluate the effects of intravireal injections of aflibercept (Eylea) on bilateral cystoid macular edema in a patient with retinitis pigmentosa. Material and Methods. A 17-year-old man presented with a moderate bilateral decrease of visual acuity (0.3) and ocular examination was performed. Optical coherence tomography imaging was performed and cystoid macular edema was detected in both eyes. Due to disease progression in a short period of time, intravitreal repeated injections of aflibercept (Eylea) were initiated according to recent clinical reports. Results. The initial values of cystoid macular edema before intravitreal therapy were 248 ?m in the right and 237 ?m in the left eye; they increased slowly in next several weeks. Four bilateral repeated doses of intravitreal aflibercept injections at 6-week intervals were given in local anesthesia. The patient reported a subjective improvement, and his visual acuity was 4/10 in both eyes. Objectively, the macular edema decreased at week 24, reaching 173 ?m in the right and 188 ?m in the left eye. Conclusion. There are few literature reports on the possible effects of intravitreal aflibercept injections in the treatment of retinitis pigmentosa-related cystoid macular edema. In our study, bilateral macular edema in a patient with retinitis pigmentosa has improved significantly after four consecutive treatments. Further studies are necessary with a larger sample size and longer follow-up period to obtain information on the role and safety of intravitreal drugs for cystoid macular edema in retinitis pigmentosa. <br><br><font color="red"><b> This article has been corrected. Link to the correction <u><a href="http://dx.doi.org/10.2298/MPNS1910326E">10.2298/MPNS1910326E</a><u></b></font>
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26

Jay, Marcelle, and Chris Inglehearn. "New strategies in molecular genetic studies of X-linked retinitis pigmentosa." Eye 4, no. 5 (September 1990): 737–42. http://dx.doi.org/10.1038/eye.1990.105.

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27

Stavrou, P., P. A. Good, E. J. Broadhurst, S. Bundey, A. R. Fielder, and S. J. Crews. "ERG and EOG abnormalities in carriers of X-linked retinitis pigmentosa." Eye 10, no. 5 (September 1996): 581–89. http://dx.doi.org/10.1038/eye.1996.134.

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28

Prem Senthil, M., J. Khadka, and K. Pesudovs. "Seeing through their eyes: lived experiences of people with retinitis pigmentosa." Eye 31, no. 5 (January 13, 2017): 741–48. http://dx.doi.org/10.1038/eye.2016.315.

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29

Parija, Sucheta, and Koyel Chakraborty. "Management of cataract in a case of retinitis pigmentosa with bilateral pseudoexfoliation syndrome." BMJ Case Reports 14, no. 2 (February 2021): e238936. http://dx.doi.org/10.1136/bcr-2020-238936.

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Retinitis pigmentosa (RP) patients are at higher risk for macular oedema, anterior capsular phimosis and spontaneous dislocation of the implanted lens after cataract surgery. A 70-year-old hypertensive woman presented with diminution of vision in her left eye since 2 years. She had history of cataract surgery in the right eye 1 year ago. Her visual acuity was 20/200 in right eye and hand movements in left eye. Slit-lamp examination showed anterior capsular phimosis with intraocular lens in the right eye and pseudoexfoliation in both the eyes. Fundus examination revealed features of RP in both the eyes. Optical coherence tomography showed bilateral foveal atrophy. The patient underwent phacoemulsification cataract surgery with intraocular lens implantation in left eye and Nd:YAG laser capsulotomy in right eye. Postoperative best corrected distance visual acuity was 20/125 in right eye and 20/80 in left eye. This case highlights a rare coincidence of pseudoexfoliation syndrome in a patient with RP and the precautions undertaken during cataract surgery for an optimal visual outcome.
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30

Chan, T. C. Y., S. C. Lam, S. Mohamed, and R. L. M. Wong. "Survival analysis of visual improvement after cataract surgery in advanced retinitis pigmentosa." Eye 31, no. 12 (August 4, 2017): 1747–48. http://dx.doi.org/10.1038/eye.2017.164.

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31

Woude, Logan Vander, Ramak Roohipour, and Gibran Syed Khurshid. "Phthisis Bulbi in a Retinitis Pigmentosa Patient after Argus II Implantation." Case Reports in Ophthalmological Medicine 2020 (August 17, 2020): 1–4. http://dx.doi.org/10.1155/2020/5608058.

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Purpose. To report a previously unreported complication of phthisis after Argus II prosthesis implantation in a retinitis pigmentosa (RP) patient. Case. A 61-year-old male with advanced RP presented to the retina clinic. The patient had a history of vitrectomy in both eyes (OU) in Cuba in 1996. Pre-op visual acuity (VA) was no light perception (NLP) in the right eye and light perception (LP) in the left eye. The patient met the criteria for Argus II implantation and elected to proceed with surgery in his left eye in December 2017. The surgical implantation of the Argus II was successful without any complications. On postoperative day 1, his VA was stable at LP. He was satisfied with his ambulatory vision after the electrodes were turned on. Four months after surgery, the patient was complaining of aching pain; he was found to have preseptal cellulitis and was started on antibiotics. This swelling improved over two weeks, but when the patient returned, he had a two mm hyphema associated with mild ocular inflammation without an inciting event or reason on exam. The hyphema was treated and resolved after two weeks. However, one month after the hyphema resolved, at postoperative month six, the patient’s vision in his left eye became NLP and began to demonstrate phthisical changes, including hypotony, Descemet membrane folds, and a vascular posterior capsular membrane. Discussion. The theoretical causes of phthisis bulbi after Argus II implantation include fibrous downgrowth, ciliary shut down due to immune reaction, inflammation, or trauma. While the cause of phthisis in this Argus patient is not certain and possibly multifactorial, it is important to note that phthisis is a possible complication of an Argus II implant, as this patient had no other obvious insult or reason for the phthisical change.
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32

Chin, Cheau Wei, and Kiet Phang Ling. "Lamellar hole-associated epiretinal membrane in retinitis pigmentosa: a surgical correlation." Malaysian Journal of Ophthalmology 2, no. 4 (November 6, 2020): 293–99. http://dx.doi.org/10.35119/myjo.v2i4.141.

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Retinitis pigmentosa (RP) is a rare hereditary disease, yet it is the commonest cause of retinal dystrophy. Although lamellar hole-associated epiretinal membrane (LHEP) is commonly associated with macular holes, the development of macular holes in RP itself is rare. In this article, we report a rare case of bilateral LHEP in RP, and the surgical outcome of LHEP embedding and internal limiting membrane (ILM) flap in repairing a lamellar macular hole (LMH). A 57-year-old woman who had RP with bilateral LHEP underwent a combination of cataract and vitrectomy surgery in her left eye. We preserved LHEP tissue and performed an ILM flap to avoid a iatrogenic full-thickness macular hole (FTMH) and facilitate LMH closure. Her right eye was monitored conservatively. At 2 weeks postoperative, the LMH in her left eye was anatomically repaired. There was limited improvement of visual acuity, which could be justified by disruption of the junction between the photoreceptors’ inner and outer segments (IS/OS junction) as evidenced by spectral-domain optical coherence tomography (SD-OCT). The presence of LHEP in LMH is highly associated with disruption of the IS/OS junction and therefore patients should be counselled regarding guarded visual improvement post-vitrectomy. LHEP, which is derived from a Müller cell-driven process, is closely associated with LMH in RP, likely due to the progressive retinal tissue loss as a result from the disease nature of RP. Therefore, we suggest preserving LHEP tissue and performing an ILM flap as an improvised technique to avoid iatrogenic FTMH and facilitate LMH closure.
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33

Barge, Sidnei, Renata Rothwell, Paula Sepúlveda, and Luís Agrelos. "Intravitreal and Subtenon Depot Triamcinolone as Treatment of Retinitis Pigmentosa Associated Cystoid Macular Edema." Case Reports in Ophthalmological Medicine 2013 (2013): 1–8. http://dx.doi.org/10.1155/2013/591681.

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We present a case of retinitis pigmentosa (RP) related cystoid macular edema (CME) refractory to oral acetazolamide and topical ketorolac that was treated with intravitreal and subtenon depot triamcinolone. A 32-year-old male with RP presented with complaints of bilateral decrease in visual acuity. His best-corrected visual acuity (BCVA) was 20/50 in the right eye and 20/100 in the left eye. After being informed of the available treatment options, the patient received bilateral intravitreal injection triamcinolone. The patient’s BCVA improved to 20/40 in the right eye and 20/50 in the left eye and the CME was resorbed. However, 5 months after the injection in the left eye and two months in the right eye, visual acuity decreased due to recurrence of CME. We performed a second intravitreal injection in the left eye with improvement of visual and anatomic results, but we observed a recurrence of CME. Afterwards, we treated the patient with subtenon depot triamcinolone in both eyes, with the result that there was no recurrence after 4 months in OD or after 3 months in OS. We conclude that intravitreal and subtenon depot triamcinolone appear to provide at least temporary benefit in refractory CME as regards the improvement of visual acuity.
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34

Aleman, T. S., B. L. Lam, A. V. Cideciyan, A. Sumaroka, E. A. M. Windsor, A. J. Roman, S. B. Schwartz, E. M. Stone, and S. G. Jacobson. "Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets." Eye 23, no. 1 (August 15, 2008): 230–33. http://dx.doi.org/10.1038/eye.2008.264.

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35

Oishi, A., A. Otani, M. Sasahara, H. Kojima, H. Nakamura, M. Kurimoto, and N. Yoshimura. "Photoreceptor integrity and visual acuity in cystoid macular oedema associated with retinitis pigmentosa." Eye 23, no. 6 (August 22, 2008): 1411–16. http://dx.doi.org/10.1038/eye.2008.266.

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36

Wu, D. M., H. Khanna, P. Atmaca-Sonmez, P. A. Sieving, K. Branham, M. Othman, A. Swaroop, S. P. Daiger, and J. R. Heckenlively. "Long-term follow-up of a family with dominant X-linked retinitis pigmentosa." Eye 24, no. 5 (November 6, 2009): 764–74. http://dx.doi.org/10.1038/eye.2009.270.

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37

Vingolo, E. M., S. Valente, E. Gerace, L. Spadea, and M. Nebbioso. "Macular hole in retinitis pigmentosa patients: microincision vitrectomy with polydimethylsiloxane as possible treatment." Eye 29, no. 5 (February 20, 2015): 699–702. http://dx.doi.org/10.1038/eye.2014.344.

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38

Kim, Robert Y., Steven D. Schwartz, John R. Heckenlively, Zdenek J. Gregor, and Robert J. Cooling. "Giant retinal tear and retinal detachment with underlying retinitis pigmentosa and hearing loss." Eye 10, no. 6 (November 1996): 697–700. http://dx.doi.org/10.1038/eye.1996.163.

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39

Battu, R., A. Khanna, B. Hegde, T. T. J. M. Berendschot, S. Grover, and J. S. A. G. Schouten. "Correlation of structure and function of the macula in patients with retinitis pigmentosa." Eye 29, no. 7 (May 8, 2015): 895–901. http://dx.doi.org/10.1038/eye.2015.61.

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40

Neugebauer, Alexander, Katarina Stingl, Iliya Ivanov, and Siegfried Wahl. "Influence of Systematic Gaze Patterns in Navigation and Search Tasks with Simulated Retinitis Pigmentosa." Brain Sciences 11, no. 2 (February 12, 2021): 223. http://dx.doi.org/10.3390/brainsci11020223.

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People living with a degenerative retinal disease such as retinitis pigmentosa are oftentimes faced with difficulties navigating in crowded places and avoiding obstacles due to their severely limited field of view. The study aimed to assess the potential of different patterns of eye movement (scanning patterns) to (i) increase the effective area of perception of participants with simulated retinitis pigmentosa scotoma and (ii) maintain or improve performance in visual tasks. Using a virtual reality headset with eye tracking, we simulated tunnel vision of 20° in diameter in visually healthy participants (n = 9). Employing this setup, we investigated how different scanning patterns influence the dynamic field of view—the average area over time covered by the field of view—of the participants in an obstacle avoidance task and in a search task. One of the two tested scanning patterns showed a significant improvement in both dynamic field of view (navigation 11%, search 7%) and collision avoidance (33%) when compared to trials without the suggested scanning pattern. However, participants took significantly longer (31%) to finish the navigation task when applying this scanning pattern. No significant improvements in search task performance were found when applying scanning patterns.
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41

Averianova, S. V., and T. N. Iureva. "Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia." Acta Biomedica Scientifica 4, no. 4 (August 25, 2019): 36–40. http://dx.doi.org/10.29413/abs.2019-4.4.5.

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Retinal pigment abiotrophy is a hereditary disease with a primary diffuse lesion of photoreceptors and the retinal pigment epithelium, in which characteristic functional changes and a typical picture of the fundus with pigment bone bodies are noted. Retinal pigment abiotrophy is the most common disease of all dystrophies of the retina.Aim. To do a clinical genealogical analysis of the type of inheritance of pigmentary retinitis in residents of Tarbagatai region of the Republic of Buryatia.Material and methods. At the first stage of the study, a round between the residents of Tarbagatai region of the Republic of Buryatia was conducted by interviewing and questioning. At the second stage, people with suspected pigment retinitis and their blood relatives underwent a full ophthalmologic examination to confirm the diagnosis, and a thorough collection of genealogical information was carried out to determine the type of inheritance.Results. 20 patients were allocated from 12 families of 1237 interviewed people aged 15 to 76 years living in a closed community in the territory of Buryatia in the Tarbagatai region, 12 of them with a presumptive diagnosis of retinitis pigmentosa, with signs of Usher syndrome (retinitis pigmentosa + sensorineural hearing loss) – 8 people. In general, the analysis of 20 pedigrees with an established type of inheritance in 89.9 % of cases revealed an autosomal recessive type; in 10.1 % – autosomal dominant type of retinitis pigmentosa.Conclusion. A complete collection of genealogical history is the basis for the diagnosis of hereditary eye diseases.
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42

Jackson, Timothy L., Naresh Mandava, Hugo Quiroz-Mercado, Matthew Benage, Gerardo Garcia-Aguirre, Virgilio Morales-Canton, Luana Wilbur, and Jeffrey Olson. "Intravitreal quantum dots for retinitis pigmentosa: a first-in-human safety study." Nanomedicine 16, no. 8 (April 2021): 617–26. http://dx.doi.org/10.2217/nnm-2020-0471.

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Background: Studies indicate that electrical stimulation of retinitis pigmentosa (RP) retina is beneficial. Quantum dots (QDs) can convert light to electrical stimulus and therefore may have therapeutic potential for RP. Methods: This was an open-label, fellow eye-controlled, first-in-human safety study. Five adults with end-stage (arm A) and 15 with severe (arm B) RP received one or two intravitreal injections of 0.2 or 2μM cadmium/selenium 655 Alt QDs. Results: No adverse events were attributed to QDs. In arm A, median best corrected visual acuity was unchanged. In arm B, mean best corrected visual acuity improved from 6/398 to 6/177, versus 6/147 to 6/144 in the fellow eye. Conclusion: Intravitreal QDs can be safely administered to patients with RP. Vision appears to benefit and further validating studies are justified.
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43

Bittner, A. K., J. A. Haythornthwaite, M. Diener-West, and G. Dagnelie. "Photopsias are related in part to perceived stress and positive mood in retinitis pigmentosa." Eye 26, no. 1 (October 14, 2011): 101–8. http://dx.doi.org/10.1038/eye.2011.247.

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44

Patil, L., and A. J. Lotery. "Coat’s-like exudation in rhodopsin retinitis pigmentosa: successful treatment with an intravitreal dexamethasone implant." Eye 28, no. 4 (January 24, 2014): 449–51. http://dx.doi.org/10.1038/eye.2013.314.

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45

Shakhmantsir, Iryna, Scott J. Dooley, Siddharth Kishore, Dechun Chen, Eric Pierce, Jean Bennett, and Amita Sehgal. "RNA Splicing Factor Mutations That Cause Retinitis Pigmentosa Result in Circadian Dysregulation." Journal of Biological Rhythms 35, no. 1 (November 15, 2019): 72–83. http://dx.doi.org/10.1177/0748730419887876.

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Circadian clocks regulate multiple physiological processes in the eye, but their requirement for retinal health remains unclear. We previously showed that Drosophila homologs of spliceosome proteins implicated in human retinitis pigmentosa (RP), the most common genetically inherited cause of blindness, have a role in the brain circadian clock. In this study, we report circadian phenotypes in murine models of RP. We found that mice carrying a homozygous H2309P mutation in Pre-mRNA splicing factor 8 ( Prpf8) display a lengthened period of the circadian wheel-running activity rhythm. We show also that the daily cycling of circadian gene expression is dampened in the retina of Prpf8-H2309P mice. Surprisingly, molecular rhythms are intact in the eye cup, which includes the retinal pigment epithelium (RPE), even though the RPE is thought to be the primary tissue affected in this form of RP. Downregulation of Prp31, another RNA splicing factor implicated in RP, leads to period lengthening in a human cell culture model. The period of circadian bioluminescence in primary fibroblasts of human RP patients is not significantly altered. Together, these studies link a prominent retinal disorder to circadian deficits, which could contribute to disease pathology.
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46

Karadzic, Jelena, Igor Kovacevic, Aleksandra Radosavljevic, and Ivan Stefanovic. "Dorzolamide in a management of cystoid macular edema in a patient with retinitis pigmentosa sine pigmento." Srpski arhiv za celokupno lekarstvo 145, no. 5-6 (2017): 296–300. http://dx.doi.org/10.2298/sarh160421052k.

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Introduction. Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies caused by mutations in various genes. The disease leads to progressive photoreceptors loss (rods predominantly) and retinal pigment epithelium alteration. RP can lead to blindness in the advanced stages of the disease, when the central retina is involved, mostly due to the presence of cystoid macular edema (CME). Several therapeutic approaches for CME in RP patients have been attempted but responses have been variable. Case outline. A 51-year-old man was referred due to progressive six-month-long blurring of vision in both eyes. The patient underwent complete ophthalmological examination at baseline. Based on the clinical presentation of mottled mid periphery of the retina and characteristic tubular visual field loss, hence typical fluorescein angiography and optical coherence tomography (OCT) findings, the patient was diagnosed as bilateral retinitis pigmentosa sine pigmento with CME. In an attempt to control the edema, treatment was started with dorzolamide, instilled three times daily in each eye, which resulted in reduction of macular edema in a one-month-period, as documented by OCT. This effect was further monitored for five months and was stable. Conclusion. In the presented case, we investigate the six-month therapeutic efficacy of dorzolamide for dealing with the CME secondary to RP. Topical carbonic anhydrase inhibitors are considered as the first option for treatment of CME in RP patients, due to their high efficacy and safety.
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47

De Salvo, G., M. Gemenetzi, A. J. Luff, and A. J. Lotery. "Cystoid macular oedema successfully treated by cryotherapy in retinitis pigmentosa with Coats'-like retinal exudation." Eye 25, no. 6 (February 25, 2011): 821–22. http://dx.doi.org/10.1038/eye.2011.25.

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48

Oishi, A., K. Ogino, S. Nakagawa, Y. Makiyama, M. Kurimoto, A. Otani, and N. Yoshimura. "Longitudinal analysis of the peripapillary retinal nerve fiber layer thinning in patients with retinitis pigmentosa." Eye 27, no. 5 (March 22, 2013): 597–604. http://dx.doi.org/10.1038/eye.2013.34.

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49

Amemiya, K. "A Macular Hole in the Eye of a Young Patient with Retinitis Pigmentosa." Japanese Journal of Ophthalmology 46, no. 5 (October 2002): 599. http://dx.doi.org/10.1016/s0021-5155(02)00579-8.

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50

Nangia, Vinay, Jost B. Jonas, Anshu Khare, and Ajit Sinha. "Prevalence of retinitis pigmentosa in India: the Central India Eye and Medical Study." Acta Ophthalmologica 90, no. 8 (May 18, 2012): e649-e650. http://dx.doi.org/10.1111/j.1755-3768.2012.02396.x.

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