X-linked Juvenile Retinoschisis in a Young Female
X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical carbonic-anhydrase inhibitors. 18-year female presented with bilateral blurred vision for two years. Best corrected vision was 6/24 ri...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nepal Health Research Council
2022-06-01
|
| Series: | Journal of Nepal Health Research Council |
| Online Access: | https://jnhrc.com.np/index.php/jnhrc/article/view/3757 |
| _version_ | 1811244495699705856 |
|---|---|
| author | Sudha Ranabhat Raghunandan Byanju Simanta Khadka |
| author_facet | Sudha Ranabhat Raghunandan Byanju Simanta Khadka |
| author_sort | Sudha Ranabhat |
| collection | DOAJ |
| description |
X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical carbonic-anhydrase inhibitors.
18-year female presented with bilateral blurred vision for two years. Best corrected vision was 6/24 right eye and 6/12 left eye. Fundus examination, ocular coherence tomography and fundus fluorescein angiography supported the diagnosis. Systemic and topical carbonic-anhydrase inhibitors were advised and followed for six months with scrutinization of possible adverse drug reaction.
Juvenile retinoschisis being rare among females, prompt diagnosis and management helps for the restoration of the vision and foveal anatomy.
Keywords: Carbonic anhydrase inhibitors; female; retinoschisin ; X linked juvenile retinoschisis.
|
| first_indexed | 2024-04-12T14:26:04Z |
| format | Article |
| id | doaj.art-397bb00482474dc18356e1ffcd844a45 |
| institution | Directory Open Access Journal |
| issn | 1727-5482 1999-6217 |
| language | English |
| last_indexed | 2024-04-12T14:26:04Z |
| publishDate | 2022-06-01 |
| publisher | Nepal Health Research Council |
| record_format | Article |
| series | Journal of Nepal Health Research Council |
| spelling | doaj.art-397bb00482474dc18356e1ffcd844a452022-12-22T03:29:25ZengNepal Health Research CouncilJournal of Nepal Health Research Council1727-54821999-62172022-06-01200110.33314/jnhrc.v20i01.3757X-linked Juvenile Retinoschisis in a Young FemaleSudha Ranabhat0Raghunandan Byanju1Simanta Khadka2Bharatpur Eye Hospital, Chitwan, NepalBharatpur Eye Hospital, Chitwan, NepalNepal Eye Hospital, Kathmandu, Nepal X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical carbonic-anhydrase inhibitors. 18-year female presented with bilateral blurred vision for two years. Best corrected vision was 6/24 right eye and 6/12 left eye. Fundus examination, ocular coherence tomography and fundus fluorescein angiography supported the diagnosis. Systemic and topical carbonic-anhydrase inhibitors were advised and followed for six months with scrutinization of possible adverse drug reaction. Juvenile retinoschisis being rare among females, prompt diagnosis and management helps for the restoration of the vision and foveal anatomy. Keywords: Carbonic anhydrase inhibitors; female; retinoschisin ; X linked juvenile retinoschisis. https://jnhrc.com.np/index.php/jnhrc/article/view/3757 |
| spellingShingle | Sudha Ranabhat Raghunandan Byanju Simanta Khadka X-linked Juvenile Retinoschisis in a Young Female Journal of Nepal Health Research Council |
| title | X-linked Juvenile Retinoschisis in a Young Female |
| title_full | X-linked Juvenile Retinoschisis in a Young Female |
| title_fullStr | X-linked Juvenile Retinoschisis in a Young Female |
| title_full_unstemmed | X-linked Juvenile Retinoschisis in a Young Female |
| title_short | X-linked Juvenile Retinoschisis in a Young Female |
| title_sort | x linked juvenile retinoschisis in a young female |
| url | https://jnhrc.com.np/index.php/jnhrc/article/view/3757 |
| work_keys_str_mv | AT sudharanabhat xlinkedjuvenileretinoschisisinayoungfemale AT raghunandanbyanju xlinkedjuvenileretinoschisisinayoungfemale AT simantakhadka xlinkedjuvenileretinoschisisinayoungfemale |