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Journal articles on the topic 'Cone, retinitis pigmentosa'

Author: Grafiati

Published: 10 March 2023

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1

haradhan chowdhury, Partha. "GIST OF RETINITIS PIGMENTOSA." EPH - International Journal of Medical and Health Science 4, no. 1 (January 16, 2018): 18–19. http://dx.doi.org/10.53555/eijmhs.v4i1.15.

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It is a hereditary disease and mainly it is characterized by Night Blindness and visual field constriction. Here, degeneration occurs in rods and cone cells. In case of Retinitis Pigmentosa:Blood vessels became attenuate means it becomes thin. Rods and Cone cells are degenerated. Highest number of rod cells are present at the peripheral part of the retina and the highest number of cone cells are present at foveal part

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2

Wong, Fulton. "Visual Pigments, Blue Cone Monochromasy, and Retinitis Pigmentosa." Archives of Ophthalmology 108, no. 7 (July 1, 1990): 935. http://dx.doi.org/10.1001/archopht.1990.01070090037033.

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3

Bovolenta, Paola, and Elsa Cisneros. "Retinitis pigmentosa: cone photoreceptors starving to death." Nature Neuroscience 12, no. 1 (January 2009): 5–6. http://dx.doi.org/10.1038/nn0109-5.

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4

Elsner, Ann E., Stephen A. Burns, and Louis A. Lobes. "Foveal cone optical density in retinitis pigmentosa." Applied Optics 26, no. 8 (April 15, 1987): 1378. http://dx.doi.org/10.1364/ao.26.001378.

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5

Jones, Jennifer, Michael Baldinger, and John Sharpe. "Cone-Rod Dystrophy Versus Inverse Retinitis Pigmentosa." Optometry - Journal of the American Optometric Association 81, no. 6 (June 2010): 298. http://dx.doi.org/10.1016/j.optm.2010.04.067.

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6

Kaplan, HenryJ, Wei Wang, Niloofar Piri, and DouglasC Dean. "Metabolic rescue of cone photoreceptors in retinitis pigmentosa." Taiwan Journal of Ophthalmology 11, no. 4 (2021): 331. http://dx.doi.org/10.4103/tjo.tjo_46_21.

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7

Murakami, Y., Y. Ikeda, S. Nakatake, J. W. Miller, D. G. Vavvas, K. H. Sonoda, and T. Ishibashi. "Necrotic cone photoreceptor cell death in retinitis pigmentosa." Cell Death & Disease 6, no. 12 (December 2015): e2038-e2038. http://dx.doi.org/10.1038/cddis.2015.385.

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8

Kaplan, Henry J., Wei Wang, and Douglas C. Dean. "Restoration of Cone Photoreceptor Function in Retinitis Pigmentosa." Translational Vision Science & Technology 6, no. 5 (September 6, 2017): 5. http://dx.doi.org/10.1167/tvst.6.5.5.

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9

Arsiwalla, Tasneem A., Elisa E. Cornish, Phuc Vuong Nguyen, Maria Korsakova, Haipha Ali, Nonna Saakova, Clare L. Fraser, Robyn V. Jamieson, and John R. Grigg. "Assessing Residual Cone Function in Retinitis Pigmentosa Patients." Translational Vision Science & Technology 9, no. 13 (December 17, 2020): 29. http://dx.doi.org/10.1167/tvst.9.13.29.

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10

Sahel, José-Alain, Thierry Léveillard, Serge Picaud, Deniz Dalkara, Katia Marazova, Avinoam Safran, Michel Paques, Jens Duebel, Botond Roska, and Saddek Mohand-Said. "Functional rescue of cone photoreceptors in retinitis pigmentosa." Graefe's Archive for Clinical and Experimental Ophthalmology 251, no. 7 (April 11, 2013): 1669–77. http://dx.doi.org/10.1007/s00417-013-2314-7.

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11

Wong, Fulton, and Shiu Y. Kwok. "The Survival of Cone Photoreceptors in Retinitis Pigmentosa." JAMA Ophthalmology 134, no. 3 (March 1, 2016): 249. http://dx.doi.org/10.1001/jamaophthalmol.2015.5490.

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12

Delfi, Delfi, Vanda Virgayanti, and Rika Ramadhani Sinambela. "Retinitis Pigmentosa: A Case Report." Jurnal Sosial Sains 2, no. 2 (February 15, 2022): 270–77. http://dx.doi.org/10.36418/sosains.v2i2.355.

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Background : Retinitis pigmentosa is an inherited heterogeneous group of retinal disorders represented by rod photoreceptors progressive dysfunction with subsequent cone photoreceptors degeneration and the retinal pigment epithelium. The typical manifestations are progressive loss of visual field and night blindness. Purpose : The purpose of this study was to examine with the Amsler Grid on the right and left eyes, no scotomas and metamorphopsia were found. Method : The type of research is quantitative with an explanatory research approach, the sampling technique is saturated sampling with the number of subjects 76 employees and the data analysis technique uses PLS. Results : Best corrected visual acuity was 6/9 in the right eye and 6/18 in the left eye. There was arteriolar attenuation, waxy disc pallor, bone-spicule pigmentation and pigment deposits on both eyes in funduscopy exaination. The patient was diagnosed with retinitis pigmentosa. The management given was vitamin A 15.000 IU/day, DHA 1.200mg/day, and counselling about retinitis pigmentosa, progressivity, and prognosis. Conclusion : Retinitis pigmentosa caused irrreversible visual and visual field impairment. Low vision management for retinitis pigmentosa was to optimize the visual function and optimized quality of life. Genetic counselling might provide the patient and her family information of the inheritance and genetic disorders implications that could help the patient to obtain medical information regarding the disease.

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Sana Balouch, Malab, Muhammad Shahbaz, and Mohammad Moaz Balouch. "A Journey towards Improved Quality of Life of a Typist with Retinitis Pigmintosa." ANNALS OF ABBASI SHAHEED HOSPITAL AND KARACHI MEDICAL & DENTAL COLLEGE 27, no. 02 (May 28, 2022): 110–13. http://dx.doi.org/10.58397/ashkmdc.v27i02.523.

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Abstract: Retinitis pigmentosa (RP) is a group of inherited rod-cone degenerative pathologies that present clinically with similar signs and symptoms. Common fundus findings include bone-spicule pigment formation, attenuated blood vessels in the posterior pole and waxy optic nerve pallor. Symptoms mostly start with progressive night blindness, mid-peripheral visual field defects, and eventual tunnel vision. A 42 year old male patient, typist by profession presented to our clinic with complaints of decreased vision and reduced dark adaptation affecting his quality of life a lot. On examination, he was diagnosed as an advanced case of retinitis pigmentosa bilaterally and there was bilateral posterior sub capsular cataract. His quality of life was assessed by using a simplified version of the VFQ-25 questionnaire. After successful cataract surgery and low vision rehabilitation his quality of life was reassessed by using same questionnaire. He had a much more positive outlook towards his eyesight. Our case report reviews the life changing personalized low vision rehabilitation of a typist with retinitis pigmentosa. Key words: retinitis pigmentosa, quality of life, low vision rehabilitation

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14

Tzekov, Radouil T., Kirsten G. Locke, Donald C. Hood, and David G. Birch. "Cone and Rod ERG Phototransduction Parameters in Retinitis Pigmentosa." Investigative Opthalmology & Visual Science 44, no. 9 (September 1, 2003): 3993. http://dx.doi.org/10.1167/iovs.02-1104.

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15

Campochiaro, Peter A., and Tahreem A. Mir. "The mechanism of cone cell death in Retinitis Pigmentosa." Progress in Retinal and Eye Research 62 (January 2018): 24–37. http://dx.doi.org/10.1016/j.preteyeres.2017.08.004.

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16

Hood, Donald C., and David G. Birch. "Abnormalities of the retinal cone system in retinitis pigmentosa." Vision Research 36, no. 11 (June 1996): 1699–709. http://dx.doi.org/10.1016/0042-6989(95)00246-4.

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17

Vingolo, Enzo M., Lorenzo Casillo, Laura Contento, Francesca Toja, and Antonio Florido. "Retinitis Pigmentosa (RP): The Role of Oxidative Stress in the Degenerative Process Progression." Biomedicines 10, no. 3 (March 2, 2022): 582. http://dx.doi.org/10.3390/biomedicines10030582.

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Purpose: Retinitis Pigmentosa is a term that includes a group of inherited bilateral and progressive retinal degenerations, with the involvement of rod photoreceptors, which frequently leads to blindness; oxidative stress may be involved in the degeneration progression as proposed by several recent studies. The goal of this study is to evaluate whether circulating free radicals taken from capillary blood are related to one of the most important features of Retinitis pigmentosa that can affect frequently patients: cystoid macular oedema (CME). Materials: A total of 186 patients with Retinitis Pigmentosa (range: 25–69 years) were enrolled; all patients completed an ophthalmologic examination and SD-OCT at baseline and were divided into three subgroups according to the SD-OCT features. ROS blood levels were determined using FORT with monitoring of free oxygen radicals. Results: Test levels of free oxygen radicals were significantly increased, almost twice, in RP patients showing cystoid macular oedema and significantly increased compared to the control group. (p < 0.001). Discussion: Our findings suggest that oxidative stress may speed cone photoreceptors’ morphological damage (CMT); because long lasting oxidative stress in the RP may cause oxidative damage, with animal models of RP suggesting this is a micromolecular mechanism of photoreceptors’ (cone) death, it can be similar to cone damage in human RP eyes. The limitations of this paper are the relatively small sample, the horizontal design of the study, and the lack of data about the levels of ROS in the vitreous body.

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18

Matsui, Rodrigo, David B. McGuigan III, Michaela L. Gruzensky, Tomas S. Aleman, Sharon B. Schwartz, Alexander Sumaroka, Robert K. Koenekoop, Artur V. Cideciyan, and Samuel G. Jacobson. "SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa." Ophthalmic Genetics 37, no. 3 (February 8, 2016): 333–38. http://dx.doi.org/10.3109/13816810.2015.1130154.

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19

Lin, Rui, Meixiao Shen, Deng Pan, Su-Zhong Xu, Ren-Juan Shen, Yilei Shao, Ce Shi, Fan Lu, and Zi-Bing Jin. "Relationship Between Cone Loss and Microvasculature Change in Retinitis Pigmentosa." Investigative Opthalmology & Visual Science 60, no. 14 (November 1, 2019): 4520. http://dx.doi.org/10.1167/iovs.19-27114.

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20

Nakagawa, Satoko, Akio Oishi, Ken Ogino, Satoshi Morooka, Maho Oishi, Masako Sugahara, and Nagahisa Yoshimura. "ASYMMETRIC CONE DISTRIBUTION AND ITS CLINICAL APPEARANCE IN RETINITIS PIGMENTOSA." Retina 36, no. 7 (July 2016): 1340–44. http://dx.doi.org/10.1097/iae.0000000000000904.

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21

Milam, Ann H., and Samuel G. Jacobson. "Photoreceptor Rosettes with Blue Cone Opsin Immunoreactivity in Retinitis Pigmentosa." Ophthalmology 97, no. 12 (December 1990): 1620–31. http://dx.doi.org/10.1016/s0161-6420(90)32358-8.

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22

CEPKO, CONSTANCE L. "Effect of Gene Expression on Cone Survival in Retinitis Pigmentosa." Retina 25, Supplement (December 2005): S21—S24. http://dx.doi.org/10.1097/00006982-200512001-00008.

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23

Kilbride, P. E., M. Fishman, G. A. Fishman, and L. P. Hutman. "Foveal Cone Pigment Density Difference and Reflectance in Retinitis Pigmentosa." Archives of Ophthalmology 104, no. 2 (February 1, 1986): 220–24. http://dx.doi.org/10.1001/archopht.1986.01050140074023.

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24

Newton, Fay, and Roly Megaw. "Mechanisms of Photoreceptor Death in Retinitis Pigmentosa." Genes 11, no. 10 (September 24, 2020): 1120. http://dx.doi.org/10.3390/genes11101120.

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Retinitis pigmentosa (RP) is the most common cause of inherited blindness and is characterised by the progressive loss of retinal photoreceptors. However, RP is a highly heterogeneous disease and, while much progress has been made in developing gene replacement and gene editing treatments for RP, it is also necessary to develop treatments that are applicable to all causative mutations. Further understanding of the mechanisms leading to photoreceptor death is essential for the development of these treatments. Recent work has therefore focused on the role of apoptotic and non-apoptotic cell death pathways in RP and the various mechanisms that trigger these pathways in degenerating photoreceptors. In particular, several recent studies have begun to elucidate the role of microglia and innate immune response in the progression of RP. Here, we discuss some of the recent progress in understanding mechanisms of rod and cone photoreceptor death in RP and summarise recent clinical trials targeting these pathways.

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25

Bodenbender, Jan-Philipp, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, and Nicole Weisschuh. "Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy." International Journal of Molecular Sciences 24, no. 3 (January 31, 2023): 2709. http://dx.doi.org/10.3390/ijms24032709.

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Biallelic pathogenic variants in TULP1 are mostly associated with severe rod-driven inherited retinal degeneration. In this study, we analyzed clinical heterogeneity in 17 patients and characterized the underlying biallelic variants in TULP1. All patients underwent thorough ophthalmological examinations. Minigene assays and structural analyses were performed to assess the consequences of splice variants and missense variants. Three patients were diagnosed with Leber congenital amaurosis, nine with early onset retinitis pigmentosa, two with retinitis pigmentosa with an onset in adulthood, one with cone dystrophy, and two with cone-rod dystrophy. Seventeen different alleles were identified, namely eight missense variants, six nonsense variants, one in-frame deletion variant, and two splice site variants. For the latter two, minigene assays revealed aberrant transcripts containing frameshifts and premature termination codons. Structural analysis and molecular modeling suggested different degrees of structural destabilization for the missense variants. In conclusion, we report the largest cohort of patients with TULP1-associated IRD published to date. Most of the patients exhibited rod-driven disease, yet a fraction of the patients exhibited cone-driven disease. Our data support the hypothesis that TULP1 variants do not fold properly and thus trigger unfolded protein response, resulting in photoreceptor death.

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26

Narayan, Daniel S., John P. M. Wood, Glyn Chidlow, and Robert J. Casson. "A review of the mechanisms of cone degeneration in retinitis pigmentosa." Acta Ophthalmologica 94, no. 8 (June 27, 2016): 748–54. http://dx.doi.org/10.1111/aos.13141.

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27

Smith, Lois E. H. "Bone marrow–derived stem cells preserve cone vision in retinitis pigmentosa." Journal of Clinical Investigation 114, no. 6 (September 15, 2004): 755–57. http://dx.doi.org/10.1172/jci22930.

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28

Venkatesh, Aditya, Shan Ma, Yun Z. Le, Michael N. Hall, Markus A. Rüegg, and Claudio Punzo. "Activated mTORC1 promotes long-term cone survival in retinitis pigmentosa mice." Journal of Clinical Investigation 125, no. 4 (March 23, 2015): 1446–58. http://dx.doi.org/10.1172/jci79766.

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29

Busskamp, V., J. Duebel, D. Balya, M. Fradot, T. J. Viney, S. Siegert, A. C. Groner, et al. "Genetic Reactivation of Cone Photoreceptors Restores Visual Responses in Retinitis Pigmentosa." Science 329, no. 5990 (June 24, 2010): 413–17. http://dx.doi.org/10.1126/science.1190897.

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30

Komeima, K., B. S. Rogers, L. Lu, and P. A. Campochiaro. "Antioxidants reduce cone cell death in a model of retinitis pigmentosa." Proceedings of the National Academy of Sciences 103, no. 30 (July 18, 2006): 11300–11305. http://dx.doi.org/10.1073/pnas.0604056103.

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31

Peachey, Neal S., Gerald A. Fishman, Deborah J. Derlacki, and Kenneth R. Alexander. "Rod and Cone Dysfunction in Carriers of X-linked Retinitis Pigmentosa." Ophthalmology 95, no. 5 (May 1988): 677–85. http://dx.doi.org/10.1016/s0161-6420(88)33128-3.

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32

Li, Xing, Reem Hasaballah Alhasani, Yanqun Cao, Xinzhi Zhou, Zhiming He, Zhihong Zeng, Niall Strang, and Xinhua Shu. "Gypenosides Alleviate Cone Cell Death in a Zebrafish Model of Retinitis Pigmentosa." Antioxidants 10, no. 7 (June 29, 2021): 1050. http://dx.doi.org/10.3390/antiox10071050.

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Retinitis pigmentosa (RP) is a group of visual disorders caused by mutations in over 70 genes. RP is characterized by initial degeneration of rod cells and late cone cell death, regardless of genetic abnormality. Rod cells are the main consumers of oxygen in the retina, and after the death of rod cells, the cone cells have to endure high levels of oxygen, which in turn leads to oxidative damage and cone degeneration. Gypenosides (Gyp) are major dammarane-type saponins of Gynostemma pentaphyllum that are known to reduce oxidative stress and inflammation. In this project we assessed the protective effect of Gyp against cone cell death in the rpgrip1 mutant zebrafish, which recapitulate the classical pathological features found in RP patients. Rpgrip1 mutant zebrafish were treated with Gyp (50 µg/g body weight) from two-months post fertilization (mpf) until 6 mpf. Gyp treatment resulted in a significant decrease in cone cell death compared to that of untreated mutant zebrafish. A markedly low level of reactive oxygen species and increased expression of antioxidant genes were detected in Gyp-incubated mutant zebrafish eyes compared to that of untreated mutant zebrafish. Similarly, the activities of catalase and superoxide dismutase and the level of glutathione were significantly increased in Gyp-treated mutant zebrafish eyes compared to that of untreated mutant zebrafish. Gyp treatment also decreased endoplasmic reticulum stress in rpgrip1 mutant eyes. Expression of proinflammatory cytokines was also significantly decreased in Gyp-treated mutant zebrafish eyes compared to that of untreated mutant zebrafish. Network pharmacology analysis demonstrated that the promotion of cone cell survival by Gyp is possibly mediated by multiple hub genes and associated signalling pathways. These data suggest treatment with Gyp will benefit RP patients.

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33

Kannan, Balaji. "Keratoconus associated with cone-rod dystrophy." Asian Journal of Ophthalmology 14, no. 3 (August 4, 2015): 115–17. http://dx.doi.org/10.35119/asjoo.v14i3.128.

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Keratoconus is known to be associated with a variety of ocular and systemic disorders. The common posterior segment disorders known to be associated with keratoconus are retinitis pigmentosa, macular coloboma, Leber’s congenital amaurosis, retinal aplasia and retrolental fibroplasias. Occurrences of keratoconus in association with tapetoretinal degeneration is rare and has been reported infrequently. Visualization of the fundus is often difficult in cases of keratoconus due to the associated refractive error and corneal opacities. This may make it difficult for the ophthalmologist to clinically diagnose associated macular degenerative changes preoperatively. We report a case of keratoconus who was diagnosed to have cone-rod dystrophy following successful corneal transplantation.

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Sánchez-Cruz, Alonso, María D. Hernández-Fuentes, Cayetana Murillo-Gómez, Enrique J. de la Rosa, and Catalina Hernández-Sánchez. "Possible Role of Insulin-Degrading Enzyme in the Physiopathology of Retinitis Pigmentosa." Cells 11, no. 10 (May 12, 2022): 1621. http://dx.doi.org/10.3390/cells11101621.

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Insulin-degrading enzyme (IDE) was named after its role as a proteolytic enzyme of insulin. However, recent findings suggest that IDE is a widely expressed, multitask protein, with both proteolytic and non-proteolytic functions. Here, we characterize the expression of IDE in the mammalian retina in both physiological and pathological conditions. We found that IDE was enriched in cone inner segments. IDE levels were downregulated in the dystrophic retina of several mouse models of retinitis pigmentosa carrying distinct mutations. In rd10 mice, a commonly studied mouse model of retinitis pigmentosa, treatment with an IDE activator (a synthetic peptide analog of preimplantation factor) delayed loss of visual function and preserved photoreceptor cells. Together, these results point to potential novel roles for IDE in retinal physiology and disease, further extending the list of diverse functions attributed to this enzyme.

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35

Gupta, Krishna Kant, Govind Gurung, and Nitin Tulsyan. "Prevalence of Retinitis Pigmentosa in a Tertiary Eye Hospital of Nepal." Nepalese Journal of Ophthalmology 14, no. 1 (May 23, 2022): 31–38. http://dx.doi.org/10.3126/nepjoph.v14i1.38977.

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Introduction: Retinitis Pigmentosa (RP) is a group of diffuse retinal degenerative diseases predominantly affecting the rod and cone photoreceptors. The prevalence of retinitis pigmentosa seen in literature is approximately 1:4000. Retinitis Pigmentosa is one of the the most common causes of blindness in the age group of 20 to 40 years. The objective of this study was to determine the profile of retinitis pigmentosa in Terai and Nepal-India border region considering patients seeking care at a Tertiary level Eye Hospital in the terai region (southern part) of Nepal. Materials and methods: A hospital-based, retrospective study was carried out at R. M. Kedia Eye Hospital. A total of 385 (83 males and 107 females from Nepal and 109 males and 86 females from India) diagnosed patients of Retinitis Pigmentosa were included in the study. Data was collected over a period of eleven years from 2008-2018. Results: Out of 385 diagnosed Retinitis Pigmentosa patients, 192 (49.87%) were male and 193 (50.13%) were female with slightly female predominance. The prevalence of RP seen in our study was 0.03%. About 51% of the patients visited here were from India and nearby border areas/ villages which cover most of the rural areas of India. In this study it was found that 49.34% of the RP cases were from Nepal, of which 43.63% of cases were from Hindu community and 5.71% from Muslim community and about 50.66% cases of RP were from India, of which 37.67% from Hindu and 12.98% from Muslim community. The peak age of presentation of RP was at 30-39 years (29.09%), followed by 20-29 years (26.75%). The common marriage pattern of consanguinity was found in Muslim community in between the first cousins. In this study the hospital record did not show any evaluation for the syndromic disease in the hospital record, though RP is usually non syndromic and there are literatures where many syndromic forms have been identified. Conclusion: The prevalence of RP seen in the study was 0.03% (A total of 1101299 sample population of which 385 patients had RP). Since RP is an inherited disease and is one of the non-treatable causes of blindness which runs in the families, a role of counseling to reduce consanguineous marriages should be brought forward to reduce the disease process.

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LU, BIN, CATHERINE W. MORGANS, SERGEY GIRMAN, RAYMOND LUND, and SHAOMEI WANG. "Retinal morphological and functional changes in an animal model of retinitis pigmentosa." Visual Neuroscience 30, no. 3 (March 19, 2013): 77–89. http://dx.doi.org/10.1017/s0952523813000011.

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AbstractThe P23H-1 transgenic rat carries a mutated mouse opsin gene, in addition to endogenous opsin genes, and undergoes progressive photoreceptor loss that is generally characteristic of human autosomal dominant retinitis pigmentosa (RP). Here, we examined morphological changes correlated with visual function that is comparable to clinical application in the pigmented P23H-1 rat retina as photoreceptor degeneration progressed. We found that rod function was compromised as early as postnatal day 28 and was a good indicator for tracking retinal degeneration. Cone function was normal and did not change until the thickness of the photoreceptor layer was reduced by 75%. Similar to the threshold versus intensity curves used to evaluate vision of RP patients, light-adaptation curves showed that cone thresholds depended on the number of remaining functioning cones, but not on its length of outer segments (OS). By 1 year of age, both rod and cone functions were significantly compromised. Correlating with early abnormal rod function, rods and related secondary neurons also underwent progressive degeneration, including shortening of inner and OS of photoreceptors, loss of rod bipolar and horizontal cell dendrites, thickening of the outer Müller cell processes, and reduced density of pre- and postsynaptic markers. Similar early morphological modifications were also observed in cones and their related secondary neurons. However, cone function was maintained at nearly normal level for a long period. The dramatic loss of rods at late stage of degeneration may contribute to the dysfunction of cones. Attention has to be focused on preserving cone function and identifying factors that damage cones when therapeutic regimes are applied to treat retinal degeneration. As such, these findings provide a foundation for future studies involving treatments to counter photoreceptor loss.

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37

Napoli, Debora, Martina Biagioni, Federico Billeri, Beatrice Di Marco, Noemi Orsini, Elena Novelli, and Enrica Strettoi. "Retinal Pigment Epithelium Remodeling in Mouse Models of Retinitis Pigmentosa." International Journal of Molecular Sciences 22, no. 10 (May 20, 2021): 5381. http://dx.doi.org/10.3390/ijms22105381.

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In retinitis pigmentosa (RP), one of many possible genetic mutations causes rod degeneration, followed by cone secondary death leading to blindness. Accumulating evidence indicates that rod death triggers multiple, non-cell-autonomous processes, which include oxidative stress and inflammation/immune responses, all contributing to cone demise. Inflammation relies on local microglia and recruitment of immune cells, reaching the retina through breakdowns of the inner blood retinal barrier (iBRB). Leakage in the inner retina vasculature suggests similarly altered outer BRB, formed by junctions between retinal pigment epithelium (RPE) cells, which are crucial for retinal homeostasis, immune response, and privilege. We investigated the RPE structural integrity in three models of RP (rd9, rd10, and Tvrm4 mice) by immunostaining for zonula occludens-1 (ZO-1), an essential regulatory component of tight junctions. Quantitative image analysis demonstrated discontinuities in ZO-1 profiles in all mutants, despite different degrees of photoreceptor loss. ZO-1 interruption zones corresponded to leakage of in vivo administered, fluorescent dextran through the choroid-RPE interface, demonstrating barrier dysfunction. Dexamethasone, administered to rd10 mice for rescuing cones, also rescued RPE structure. Thus, previously undetected, stereotyped abnormalities occur in the RPE of RP mice; pharmacological targeting of inflammation supports a feedback loop leading to simultaneous protection of cones and the RPE.

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38

Tomita, Yohei, Chenxi Qiu, Edward Bull, William Allen, Yumi Kotoda, Saswata Talukdar, Lois E. H. Smith, and Zhongjie Fu. "Müller glial responses compensate for degenerating photoreceptors in retinitis pigmentosa." Experimental & Molecular Medicine 53, no. 11 (November 2021): 1748–58. http://dx.doi.org/10.1038/s12276-021-00693-w.

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AbstractPhotoreceptor degeneration caused by genetic defects leads to retinitis pigmentosa, a rare disease typically diagnosed in adolescents and young adults. In most cases, rod loss occurs first, followed by cone loss as well as altered function in cells connected to photoreceptors directly or indirectly. There remains a gap in our understanding of retinal cellular responses to photoreceptor abnormalities. Here, we utilized single-cell transcriptomics to investigate cellular responses in each major retinal cell type in retinitis pigmentosa model (P23H) mice vs. wild-type littermate mice. We found a significant decrease in the expression of genes associated with phototransduction, the inner/outer segment, photoreceptor cell cilium, and photoreceptor development in both rod and cone clusters, in line with the structural changes seen with immunohistochemistry. Accompanying this loss was a significant decrease in the expression of genes involved in metabolic pathways and energy production in both rods and cones. We found that in the Müller glia/astrocyte cluster, there was a significant increase in gene expression in pathways involving photoreceptor maintenance, while concomitant decreases were observed in rods and cones. Additionally, the expression of genes involved in mitochondrial localization and transport was increased in the Müller glia/astrocyte cluster. The Müller glial compensatory increase in the expression of genes downregulated in photoreceptors suggests that Müller glia adapt their transcriptome to support photoreceptors and could be thought of as general therapeutic targets to protect against retinal degeneration.

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39

Oishi, Akio, Kaoru Fujinami, Go Mawatari, Nobuhisa Naoi, Yasuhiro Ikeda, Shinji Ueno, Kazuki Kuniyoshi, et al. "Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan." Genes 12, no. 11 (November 18, 2021): 1817. http://dx.doi.org/10.3390/genes12111817.

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Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40’s; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort.

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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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Foote, Katharina G., Jessica J. Wong, Alexandra E. Boehm, Ethan Bensinger, Travis C. Porco, Austin Roorda, and Jacque L. Duncan. "Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa." Investigative Opthalmology & Visual Science 61, no. 4 (April 28, 2020): 42. http://dx.doi.org/10.1167/iovs.61.4.42.

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Alexander, Kenneth R., Aruna S. Rajagopalan, Aparna Raghuram, and Gerald A. Fishman. "Activation phase of cone phototransduction and the flicker electroretinogram in retinitis pigmentosa." Vision Research 46, no. 17 (September 2006): 2773–85. http://dx.doi.org/10.1016/j.visres.2006.01.007.

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Andréeasson, Sten O. L., Michael A. Sandberg, and Eliot L. Berson. "Narrow-Band Filtering for Monitoring Low-Amplitude Cone Electroretinograms in Retinitis Pigmentosa." American Journal of Ophthalmology 105, no. 5 (May 1988): 500–503. http://dx.doi.org/10.1016/0002-9394(88)90241-3.

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Yokochi, Midori, Danjie Li, Masayuki Horiguchi, and Shoji Kishi. "Inverse pattern of photoreceptor abnormalities in retinitis pigmentosa and cone–rod dystrophy." Documenta Ophthalmologica 125, no. 3 (August 5, 2012): 211–18. http://dx.doi.org/10.1007/s10633-012-9348-8.

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Yamamoto, Shuichi, Masanori Hayashi, and Shinobu Takeuchi. "Cone electroretinogram amplitude growth with light adaptation in patients with retinitis pigmentosa." Acta Ophthalmologica Scandinavica 78, no. 4 (August 2000): 403–6. http://dx.doi.org/10.1034/j.1600-0420.2000.078004403.x.

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Mohand-Said, Saddek. "Selective Transplantation of Rods Delays Cone Loss in a Retinitis Pigmentosa Model." Archives of Ophthalmology 118, no. 6 (June 1, 2000): 807. http://dx.doi.org/10.1001/archopht.118.6.807.

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Huang, Li, Meltem Kutluer, Elisa Adani, Antonella Comitato, and Valeria Marigo. "New In Vitro Cellular Model for Molecular Studies of Retinitis Pigmentosa." International Journal of Molecular Sciences 22, no. 12 (June 16, 2021): 6440. http://dx.doi.org/10.3390/ijms22126440.

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Retinitis pigmentosa (RP) is an inherited form of retinal degeneration characterized by primary rod photoreceptor cell death followed by cone loss. Mutations in several genes linked to the disease cause increased levels of cyclic guanosine monophosphate (cGMP) and calcium ion influxes. The purpose of this project was to develop a new in vitro photoreceptor degeneration model for molecular studies of RP. 661W cells were genetically modified to stably express the neural retina leucine zipper (NRL) transcription factor. One clone (661W-A11) was selected based on the expression of Nrl target genes. 661W-A11 showed a significant increase in expression of rod-specific genes but not of cone-specific genes, compared with 661W cells. Zaprinast was used to inhibit phosphodiesterase 6 (PDE6) activity to mimic photoreceptor degeneration in vitro. The activation of cell death pathways resulting from PDE6 inhibition was confirmed by detection of decreased viability and increased intracellular cGMP and calcium, as well as activation of protein kinase G (PKG) and calpains. In this new in vitro system, we validated the effects of previously published neuroprotective drugs. The 661W-A11 cells may serve as a new model for molecular studies of RP and for high-throughput drug screening.

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Denisova, Ekaterina V., and Mariia A. Khrabrova. "Cystoid macular edema associated with retinitis pigmentosa: clinic, diagnostic, treatment approaches." Russian Pediatric Ophthalmology 15, no. 4 (December 15, 2020): 27–36. http://dx.doi.org/10.17816/rpo2020-15-4-27-36.

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Retinitis pigmentosa (RP) is a genetically determined degenerative retinal disease characterized by primary progressive degeneration of rod and secondary degeneration of cone photoreceptors. Despite the fact that the central retinal zone remains relatively intact for a long time, the most common complication of RP is macular edema (ME). The causes of ME in patients with RP have not been finally established, and treatment approaches are controversial. This article presents the modern data on the pathogenesis, clinical aspects, diagnostic, and treatment methods of ME associated with RP.

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Adilovic, Melita, Emira Ignjatic, and Arnes Cabric. "Optical Coherence Tomography (OCT) Diagnostic of Retinitis Pigmentosa - Case Study." Acta Informatica Medica 30 (2022): 329. http://dx.doi.org/10.5455/aim.2022.30.329-333.

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Background: Retinitis pigmentosa (RP) is a set of inherited rod-cone degenerative diseases that clinically presents with similar signs and symptoms. Mutations in one of more than 70 genes are involved. Patients will commonly present with bone-spicule pigment formation, waxy optic nerve pallor, and attenuated blood vessels in the posterior pole.Symptoms often begin with progressive night blindness, mid-peripheral visual field defects, and eventual tunnel vision. Central vision loss will ultimately occur following loss of rod function. Complete blindness is uncommon. Objective: The aim of this article is to present two cases of retinitis pigmentosa (mother and daughter) trough optalmologic exams in our clinic. The next aim it to show how to menage a low vision service and to treat cystoid macular oedema as a complication of retinitis pigmentosa. Methods: All medical reports are shown in this article. Every diagnostic tool as well as report is a part from our archived history of the patients and has been throughly analysed. We also reviewed available literature using the key words retinitis pigmentosa, cystoid macular oedema, gene therapy. Case presentation: A 38 year old female patient for a low vision consultation. The patient was legally blind secondary to retinitis pigmentosa, which was diagnosed in her late 20s. She reported gradually progressive hazy central vision and decreasing peripheral vision in both eyes as well as severe night blindness. Other than the diagnosis of retinitis pigmentosa in both eyes,the patient had no other remarkable ocular conditions. Findings at that visit included unaided distance visual acuities VOD: 0,04 VOS: 0,06. Pupils were round with brisk responses. Extraocular muscle motility was full in both eyes. Confrontation methode visual fields were noted as temporal loss in the right eye and superior and temporal loss in the left eye. The perimetry test could not be performed due to the lack of correspondece of the patient even after a couple repetitions of the perimetry. She had normal ocular adnexa and quiet lids, conjunctiva, and sclera in both eyes. Corneas in both eyes were noted as clear epithelium, clear stroma, and clear endothelium. Anterior chambers had normal depth, iris with no pathological findings in both eyes; lens incipient sclerotic. Intraocular pressures were noted as 22 mmHg in both eyes with Icare, 21mmHg and 19 mmHg with aplanation tonometry; pahimetry corretional factor was +1 on both eyes. The vitreous was clear in both eyes. Both optic nerves were measured as 0.4 cup-to-disc ratios with no disc edema, disc hemorrhages, notching, or thinning noted.Waxy disc pallor and attenuated blood vessels were observed in both eyes. The macula in both eyes had retinal pigment epithelium (RPE) changes with no edema or hemorrhages. Bone spicule changes were noted 360 in the periphery of both eyes with no holes or tears(Figure 1a+1b+1c+1d), Conclusion: We presented two cases of retinitis pigmentosa – the mother with diagnosed RP more than 15 years ago in need for low vision rehabilitation service and the daughter that got diagnosed after our initial examination and with complications in visual impairment through cystoid macular oedema.

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Parain, Karine, Sophie Lourdel, Alicia Donval, Albert Chesneau, Caroline Borday, Odile Bronchain, Morgane Locker, and Muriel Perron. "CRISPR/Cas9-Mediated Models of Retinitis Pigmentosa Reveal Differential Proliferative Response of Müller Cells between Xenopus laevis and Xenopus tropicalis." Cells 11, no. 5 (February 25, 2022): 807. http://dx.doi.org/10.3390/cells11050807.

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Retinitis pigmentosa is an inherited retinal dystrophy that ultimately leads to blindness due to the progressive degeneration of rod photoreceptors and the subsequent non-cell autonomous death of cones. Rhodopsin is the most frequently mutated gene in this disease. We here developed rhodopsin gene editing-based models of retinitis pigmentosa in two Xenopus species, Xenopus laevis and Xenopus tropicalis, by using CRISPR/Cas9 technology. In both of them, loss of rhodopsin function results in massive rod cell degeneration characterized by progressive shortening of outer segments and occasional cell death. This is followed by cone morphology deterioration. Despite these apparently similar degenerative environments, we found that Müller glial cells behave differently in Xenopus laevis and Xenopus tropicalis. While a significant proportion of Müller cells re-enter into the cell cycle in Xenopus laevis, their proliferation remains extremely limited in Xenopus tropicalis. This work thus reveals divergent responses to retinal injury in closely related species. These models should help in the future to deepen our understanding of the mechanisms that have shaped regeneration during evolution, with tremendous differences across vertebrates.

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