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Готові списки джерел за темами / X-linked Retinoschisis / Статті в журналах

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Статті в журналах з теми "X-linked Retinoschisis"

Автор: Grafiati

Опубліковано: 10 березня 2023

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1

Dubey, Devashish, and ShoryaVardhan Azad. "X-linked retinoschisis." Indian Journal of Ophthalmology 68, no. 1 (2020): 215. http://dx.doi.org/10.4103/ijo.ijo_1521_19.

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2

Hahn, Leo C., Mary J. van Schooneveld, Nieneke L. Wesseling, Ralph J. Florijn, Jacoline B. ten Brink, Birgit I. Lissenberg-Witte, Ine Strubbe, et al. "X-Linked Retinoschisis." Ophthalmology 129, no. 2 (February 2022): 191–202. http://dx.doi.org/10.1016/j.ophtha.2021.09.021.

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3

KIM, DAVID Y., KIMBERLY A. NEELY, JOSEPH W. SASSANI, TAMARA R. VRABEC, AVINASH TANTRI, ARCILEE FROST, and LARRY A. DONOSO. "X-LINKED RETINOSCHISIS." Retina 26, no. 8 (October 2006): 940–46. http://dx.doi.org/10.1097/01.iae.0000224321.93502.a3.

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4

Byeon, Suk Ho, Oh W. Kwon, and Sung Chul Lee. "X-Linked Retinoschisis." Ophthalmology 115, no. 5 (May 2008): 920–21. http://dx.doi.org/10.1016/j.ophtha.2007.12.009.

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5

George, N. D., J. R. Yates, and A. T. Moore. "X linked retinoschisis." British Journal of Ophthalmology 79, no. 7 (July 1, 1995): 697–702. http://dx.doi.org/10.1136/bjo.79.7.697.

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6

GIL ARRIBAS, L., I. PINILLA, E. GARCIA MARTIN, and M. IDOIPE CORTA. "X-linked retinoschisis." Acta Ophthalmologica 86 (September 4, 2008): 0. http://dx.doi.org/10.1111/j.1755-3768.2008.479.x.

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7

M, Gopal Kishan, Sheetal Baldava, and Syed Shah Asadullah H. "X LINKED JUVENILE RETINOSCHISIS." Journal of Evidence Based Medicine and Healthcare 2, no. 16 (April 20, 2015): 2460–64. http://dx.doi.org/10.18410/jebmh/2015/356.

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8

Berenberg, Thomas L., Sarah H. Van Tassel, Samir N. Patel, and R. V. Paul Chan. "Juvenile X-Linked Retinoschisis." Retina 36, no. 12 (December 2016): e117-e119. http://dx.doi.org/10.1097/iae.0000000000001046.

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9

Kellner, Ulrich, Stefanie Br�mmer, Michael H. Foerster, and Achim Wessing. "X-linked congenital retinoschisis." Graefe's Archive for Clinical and Experimental Ophthalmology 228, no. 5 (1990): 432–37. http://dx.doi.org/10.1007/bf00927256.

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10

Falcone, Philip M., and Robert J. Brockhurst. "X-Chromosome-Linked Juvenile Retinoschisis." International Ophthalmology Clinics 33, no. 2 (1993): 193–202. http://dx.doi.org/10.1097/00004397-199303320-00018.

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11

Sikkink, S. K., S. Biswas, N. R. A. Parry, P. E. Stanga, and D. Trump. "X-linked retinoschisis: an update." Journal of Medical Genetics 44, no. 4 (April 1, 2007): 225–32. http://dx.doi.org/10.1136/jmg.2006.047340.

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12

Gal, Andreas. "X-linked retinoschisis and linkage." Clinical Genetics 33, no. 2 (June 28, 2008): 143. http://dx.doi.org/10.1111/j.1399-0004.1988.tb03427.x.

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13

Rogozhina, I. V., and А. А. Gubanov. "A case of X-linked juvenile retinoschisis in the outpatient settings." Russian ophthalmology of children, no. 4 (December 29, 2020): 48–50. http://dx.doi.org/10.25276/2307-6658-2020-4-48-50.

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Анотація:

The article considers the case of observation of a child with X-linked hereditary retinoschisis in the outpatient settings. The differential diagnosis and treatment of X-linked retinoschisis is examined on the example of this child. The article reflects the clinical picture and diagnostic methods necessary for the diagnosis. Key words: X-linked juvenile retinoschisis, children, optical coherence tomography, electroretinogram.

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14

Eng, Kah Joon, Malisa Ami, and Safinaz Mohd Khialdin. "Case series of clinical features in siblings with X-linked juvenile retinoschisis." Malaysian Journal of Ophthalmology 3, no. 3 (September 22, 2021): 159–68. http://dx.doi.org/10.35119/myjo.v3i3.229.

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X-linked juvenile retinochisis (XLRS) is a rare inherited bilateral vitreoretinal dystrophy which usually affects males early in life. We describe the clinical findings, outcome, and challenges in treatment of three siblings diagnosed with XLRS. Three siblings with ages ranging from 5 to 9 years old presented with reduced visual acuity (VA) and posterior segment showing varying degrees of vitreous veil and spoke-wheel maculopathy. Optical coherence tomography (OCT) of the macula was performed, revealing retinoschisis in all eyes. All three siblings were diagnosed with XLRS and were started on topical brinzolamide twice daily. OCT was repeated at 6 months and 18 months. At 18 months, three eyes showed stable VA and three eyes showed improved in VA. One out of the three eyes with stable VA showed improved retinoschisis while the other two eyes showed worsening retinoschisis. On the other hand, one out of the three eyes with improved VA had improved retinoschisis and the other two had worsening retinoschisis. We demonstrated that the VA of patients with retinoschisis is not directly proportional to the degree of splitting of the neurosensory retina. Retinoschisis treatment is challenging, as there is no one proven effective treatment up to date.

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15

Plössl, Karolina, Verena Schmid, Kristina Straub, Carina Schmid, Mirjam Ammon, Rainer Merkl, Bernhard H. F. Weber, and Ulrike Friedrich. "Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis." Experimental Eye Research 177 (December 2018): 23–34. http://dx.doi.org/10.1016/j.exer.2018.07.021.

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16

Alfonso-Muñoz, Enrique A., Jaume Català-Mora, and Jesús Díaz-Cascajosa. "X-Linked Retinoschisis without Macular Retinoschisis: A New RS1 Mutation." Ophthalmology Retina 4, no. 7 (July 2020): 719. http://dx.doi.org/10.1016/j.oret.2020.03.001.

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17

Ikeda, Fumiko, Tomohiro Iida, and Shoji Kishi. "Resolution of Retinoschisis after Vitreous Surgery in X-Linked Retinoschisis." Ophthalmology 115, no. 4 (April 2008): 718–22. http://dx.doi.org/10.1016/j.ophtha.2007.05.047.

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18

Ibad, Sidra, Carl S. Wilkins, Alexander Pinhas, Vincent Sun, Matthew S. Wieder, and Avnish Deobhakta. "Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis." Case Reports in Ophthalmological Medicine 2020 (November 24, 2020): 1–4. http://dx.doi.org/10.1155/2020/6638553.

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Анотація:

Purpose. To report a rare case of spontaneous vitreous and intraretinal hemorrhage in a patient with juvenile X-linked retinoschisis which was managed conservatively. Methods. Single patient case report. Introduction. Juvenile X-linked retinoschisis (JXLR) most often occurs as a result of a genetic defect in the retinoschisin (RS1) gene, causing a separation between the ganglion cell layer and the nerve fiber layer. Spontaneous vitreous hemorrhage has been reported as an uncommon secondary consequence of JXLR. We present a case of spontaneous vitreous and diffuse macular intraretinal hemorrhages in a patient with JXLR which resolved with medical management alone. Results. A 23-year-old man with a history of juvenile X-linked retinoschisis presented to the ophthalmic emergency room complaining of acute onset of floaters in his right eye. On examination, the patient was found to have a new vitreous hemorrhage with diffuse intraretinal hemorrhages in his right eye, without new retinal tears or detachment. SD-OCT demonstrated multifocal pockets of subretinal fluid. The genetic testing panel revealed a hemizygous mutation in the RS-1 gene. He was managed conservatively on oral acetazolamide, with the resolution of the subretinal fluid and with both visual and symptomatic improvement. Conclusions. Spontaneous vitreous hemorrhage may rarely occur in patients with JXLR, even in the absence of acute retinal tear or detachment. This case demonstrates an atypical presentation of vitreous hemorrhage with diffuse intraretinal hemorrhage and new multifocal areas of subretinal fluid which improved without surgical intervention. Good outcomes may be achieved in these patients with conservative management alone, even in atypical presentations.

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19

Parra, M. Margarita, and M. Elizabeth Hartnett. "Vitreous hemorrhage in X-linked retinoschisis." American Journal of Ophthalmology Case Reports 25 (March 2022): 101395. http://dx.doi.org/10.1016/j.ajoc.2022.101395.

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20

Mishra, Alaknanda, and Paul A. Sieving. "X-linked Retinoschisis and Gene Therapy." International Ophthalmology Clinics 61, no. 4 (2021): 173–84. http://dx.doi.org/10.1097/iio.0000000000000373.

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21

PRENNER, JONATHAN L., ANTONIO CAPONE, STEFANO CIACCIA, YUICHIRO TAKADA, PAUL A. SIEVING, and MICHAEL T. TRESE. "CONGENITAL X-LINKED RETINOSCHISIS CLASSIFICATION SYSTEM." Retina 26, Supplement (September 2006): S61—S64. http://dx.doi.org/10.1097/01.iae.0000244290.09499.c1.

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22

Piao, Chang-Hua, Mineo Kondo, Makoto Nakamura, Hiroko Terasaki, and Yozo Miyake. "Multifocal Electroretinograms in X-Linked Retinoschisis." Investigative Opthalmology & Visual Science 44, no. 11 (November 1, 2003): 4920. http://dx.doi.org/10.1167/iovs.02-1270.

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23

Lee, Yunjeong, and Baek-Lok Oh. "Retinal Detachment in X-Linked Retinoschisis." New England Journal of Medicine 382, no. 12 (March 19, 2020): 1149. http://dx.doi.org/10.1056/nejmicm1904890.

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24

George, N. D., J. R. Yates, K. Bradshaw, and A. T. Moore. "Infantile presentation of X linked retinoschisis." British Journal of Ophthalmology 79, no. 7 (July 1, 1995): 653–57. http://dx.doi.org/10.1136/bjo.79.7.653.

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25

Areizaga Osés, A. B., R. Martínez Fernández, M. Galdos Iztueta, and N. Muruzabal Zaldíbar. "X linked retinoschisis, unusual presentation: Strabismus." Archivos de la Sociedad Española de Oftalmología (English Edition) 86, no. 10 (October 2011): 327–30. http://dx.doi.org/10.1016/j.oftale.2012.02.003.

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26

Kumar, Vinod. "Nasal involvement in X-linked retinoschisis." Indian Journal of Ophthalmology 65, no. 8 (2017): 738. http://dx.doi.org/10.4103/ijo.ijo_849_16.

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27

McKIBBIN, M., A. P. BOOTH, and N. D. L. GEORGE. "FOVEAL ECTOPIA IN X-LINKED RETINOSCHISIS." Retina 21, no. 4 (August 2001): 361–66. http://dx.doi.org/10.1097/00006982-200108000-00011.

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28

de Jong, Paul T. V. M. "Mizuo Phenomenon in X-linked Retinoschisis." Archives of Ophthalmology 109, no. 8 (August 1, 1991): 1104. http://dx.doi.org/10.1001/archopht.1991.01080080064029.

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29

Lezrek, O., O. R. Matsanga, N. Htiti, S. Tachfouti, M. Laghmari, and M. Lezrek. "Vitreous veils in X-linked retinoschisis." Journal Français d'Ophtalmologie 41, no. 6 (June 2018): 571–73. http://dx.doi.org/10.1016/j.jfo.2017.09.023.

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30

Condon, Garry P. "Congenital Hereditary (Juvenile X-linked) Retinoschisis." Archives of Ophthalmology 104, no. 4 (April 1, 1986): 576. http://dx.doi.org/10.1001/archopht.1986.01050160132029.

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31

Piquin, Gwendoline, Youssef Abdelmassih, Gilles Martin, Catherine Edelson, Florence Metge, Georges Caputo, and Thibaut Chapron. "SYMPTOMATIC EARLY-ONSET X-LINKED RETINOSCHISIS." Retina 43, no. 2 (February 2023): 348–55. http://dx.doi.org/10.1097/iae.0000000000003667.

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32

Tolun, Gökhan, Camasamudram Vijayasarathy, Rick Huang, Yong Zeng, Yan Li, Alasdair C. Steven, Paul A. Sieving, and J. Bernard Heymann. "Paired octamer rings of retinoschisin suggest a junctional model for cell–cell adhesion in the retina." Proceedings of the National Academy of Sciences 113, no. 19 (April 25, 2016): 5287–92. http://dx.doi.org/10.1073/pnas.1519048113.

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Анотація:

Retinoschisin (RS1) is involved in cell–cell junctions in the retina, but is unique among known cell-adhesion proteins in that it is a soluble secreted protein. Loss-of-function mutations in RS1 lead to early vision impairment in young males, called X-linked retinoschisis. The disease is characterized by separation of inner retinal layers and disruption of synaptic signaling. Using cryo-electron microscopy, we report the structure at 4.1 Å, revealing double octamer rings not observed before. Each subunit is composed of a discoidin domain and a small N-terminal (RS1) domain. The RS1 domains occupy the centers of the rings, but are not required for ring formation and are less clearly defined, suggesting mobility. We determined the structure of the discoidin rings, consistent with known intramolecular and intermolecular disulfides. The interfaces internal to and between rings feature residues implicated in X-linked retinoschisis, indicating the importance of correct assembly. Based on this structure, we propose that RS1 couples neighboring membranes together through octamer–octamer contacts, perhaps modulated by interactions with other membrane components.

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33

Guirou, Nouhoum, Fatoumata Sylla, YakouraH Abba Kaka, Japhet Thera, Seydou Bakayoko, Amassagou Dougnon, Sanoussi Bamani, and Jeannette Traoré. "X-linked juvenile retinoschisis: A case report." Nigerian Journal of Ophthalmology 26, no. 1 (2018): 82. http://dx.doi.org/10.4103/njo.njo_28_17.

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34

Fong, Donald S., Albert R. Frederick, Mark S. Blumenkranz, and David S. Walton. "Exudative Retinal Detachment in X-Linked Retinoschisis." Ophthalmic Surgery, Lasers and Imaging Retina 29, no. 4 (April 1998): 332–35. http://dx.doi.org/10.3928/1542-8877-19980401-14.

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35

Wakabayashi, Kenji, Yuka Sakai-Wakabayashi, and Chie Ishigami. "Mizuo–Nakamura phenomenon in X-linked retinoschisis." American Journal of Ophthalmology Case Reports 26 (June 2022): 101529. http://dx.doi.org/10.1016/j.ajoc.2022.101529.

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36

Fahim, Abigail T., Naser Ali, Taylor Blachley, and Michel Michaelides. "Peripheral fundus findings in X-linked retinoschisis." British Journal of Ophthalmology 101, no. 11 (March 27, 2017): 1555–59. http://dx.doi.org/10.1136/bjophthalmol-2016-310110.

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37

Abeshi, Andi, Alice Bruson, Tommaso Beccari, Munis Dundar, Fabiana D’Esposito, and Matteo Bertelli. "Genetic testing for X-linked juvenile retinoschisis." EuroBiotech Journal 1, s1 (October 27, 2017): 111–13. http://dx.doi.org/10.24190/issn2564-615x/2017/s1.35.

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Анотація:

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for X-linked juvenile retinoschisis (XJR). The disease has X-linked inheritance, a prevalence that varies from one in 5000 to one in 25000 males, and is caused by mutations in the RS1 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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38

Shukla, Dhananjay, and Manish Tandon. "Macular drusenoid deposits in X-linked retinoschisis." Indian Journal of Ophthalmology 61, no. 7 (2013): 366. http://dx.doi.org/10.4103/0301-4738.115791.

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39

Ambrosio, Lucia, Ronald M. Hansen, Rotem Kimia, and Anne B. Fulton. "Retinal Function in X-Linked Juvenile Retinoschisis." Investigative Opthalmology & Visual Science 60, no. 14 (November 20, 2019): 4872. http://dx.doi.org/10.1167/iovs.19-27897.

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40

George, N. D., S. J. Payne, R. M. Bill, D. E. Barton, A. T. Moore, and J. R. Yates. "Improved genetic mapping of X linked retinoschisis." Journal of Medical Genetics 33, no. 11 (November 1, 1996): 919–22. http://dx.doi.org/10.1136/jmg.33.11.919.

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41

Vesti, Eija, Kristina Nyman, Synnöve Carlson, Christina Raitta, and Henrik Forsius. "Electroretinographic Findings In Juvenile X-Linked Retinoschisis." Neuro-Ophthalmology 12, no. 3 (January 1992): 159–68. http://dx.doi.org/10.3109/01658109209058134.

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42

Bennett, Lea D., Yi-Zhong Wang, Martin Klein, Mark E. Pennesi, Thiran Jayasundera, and David G. Birch. "Structure/Psychophysical Relationships in X-Linked Retinoschisis." Investigative Opthalmology & Visual Science 57, no. 2 (February 1, 2016): 332. http://dx.doi.org/10.1167/iovs.15-18354.

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43

Shukla, D., K. B. Naresh, A. Rajendran, and R. Kim. "Macular hole secondary to X-linked retinoschisis." Eye 20, no. 12 (April 21, 2006): 1459–61. http://dx.doi.org/10.1038/sj.eye.6702338.

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44

Lledó, Belén, Jorge Ten, Dori Rodriguez-Arnedo, Joaquín Llácer, and Rafael Bernabeu. "Preimplantation genetic diagnosis of X-linked retinoschisis." Reproductive BioMedicine Online 16, no. 6 (January 2008): 886–92. http://dx.doi.org/10.1016/s1472-6483(10)60157-5.

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45

Al-Swaina, Nayef, and Sawsan R. Nowilaty. "Macular hole in juvenile X-linked retinoschisis." Saudi Journal of Ophthalmology 27, no. 4 (October 2013): 283–86. http://dx.doi.org/10.1016/j.sjopt.2013.05.001.

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46

Tasman, William, Craig Greven, and Raul Moreno. "Nasal retinal dragging in X-linked retinoschisis." Graefe's Archive for Clinical and Experimental Ophthalmology 229, no. 4 (July 1991): 319–22. http://dx.doi.org/10.1007/bf00170688.

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47

BRUCKER, ALLISON J., RICHARD F. SPAIDE, NICOLE GROSS, JAMES KLANCNIK, and KENNETH NOBLE. "OPTICAL COHERENCE TOMOGRAPHY OF X-LINKED RETINOSCHISIS." RETINA 24, no. 1 (February 2004): 151–52. http://dx.doi.org/10.1097/00006982-200402000-00021.

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48

Garg, Sunir J. "Bilateral Macular Detachments in X-linked Retinoschisis." Archives of Ophthalmology 124, no. 7 (July 1, 2006): 1053. http://dx.doi.org/10.1001/archopht.124.7.1053.

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49

Dahl, N., P. Goonewardena, J. Chotai, M. Anvret, and U. Pettersson. "DNA linkage analysis of X-linked retinoschisis." Human Genetics 78, no. 3 (March 1988): 228–32. http://dx.doi.org/10.1007/bf00291666.

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50

Konyaev, D. A. "Analysis of the efficacy of endovitreal surgery with the internal limiting membrane removal in patients with X-linked congenital retinoschisis." Modern technologies in ophtalmology, no. 3 (July 15, 2021): 87–89. http://dx.doi.org/10.25276/2312-4911-2021-3-87-89.

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Анотація:

Purpose of this article is to analyze the effectiveness of endovitreal surgery with removal of the internal limiting membrane in patients with X-linked congenital retinoschisis. Material and methods. Three male patients underwent a standard 25 G vitrectomy with staining and removal of the internal limiting membrane in the macular zone and pneumoretinopexy. Results. All operations were uneventful. Stabilization of the pathological process was noted during the study period. Conclusion. Endovitreal surgery with the removal of the inner limiting membrane in the macular zone stabilizes the progression of X-linked congenital retinoschisis. Key words: retinoschisis, internal limiting membrane, endovitreal surgery.

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