X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity
X-linked juvenile retinoschisis (XLRS) is a disease considered characteristic for males. In this study we report a consanguineous family in which 3 daughters were diagnosed with XLRS. Typical signs of XLRS were detected in 2 girls, aged 4 and 15. Fundoscopic examination of the father and the oldest...
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Galenos Yayinevi
2020-08-01
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| Series: | Türk Oftalmoloji Dergisi |
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http://www.oftalmoloji.org/archives/archive-detail/article-preview/x-linked-retinoschisis-in-females-in-a-consanguine/40093
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doaj-80319d54596b408db04e1b8a60ba860e2020-11-25T03:24:05ZengGalenos YayineviTürk Oftalmoloji Dergisi1300-06592147-26612020-08-0150425225410.4274/tjo.galenos.2020.4281513049054X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare EntityMehmet Önen0Kürşat Zor1Erkut Küçük2Gamze Yıldırım3 Ankara Şehir Hastanesi, Göz Hastalıkları Kliniği, Ankara, Türkiye Niğde Ömer Halisdemir Üniversitesi Tıp Fakültesi, Göz Hastalıkları Anabilim Dalı, Niğde, Türkiye Niğde Ömer Halisdemir Üniversitesi Tıp Fakültesi, Göz Hastalıkları Anabilim Dalı, Niğde, Türkiye Niğde Ömer Halisdemir Eğitim ve Araştırma Hastanesi, Göz Hastalıkları Kliniği, Niğde, Türkiye X-linked juvenile retinoschisis (XLRS) is a disease considered characteristic for males. In this study we report a consanguineous family in which 3 daughters were diagnosed with XLRS. Typical signs of XLRS were detected in 2 girls, aged 4 and 15. Fundoscopic examination of the father and the oldest daughter (age 17) revealed bilateral atrophic macula and retinal thinning. Although rare and considered characteristic for males, XLRS can be seen in females in Middle-East countries that have a high rate of consanguineous marriage. It can be overlooked by ophthalmologists and these patients may be misdiagnosed. http://www.oftalmoloji.org/archives/archive-detail/article-preview/x-linked-retinoschisis-in-females-in-a-consanguine/40093 x-linked retinoschisisconsanguineous marriagecystoid macular edemamacular atrophyoptical coherence tomography |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Mehmet Önen Kürşat Zor Erkut Küçük Gamze Yıldırım |
| spellingShingle |
Mehmet Önen Kürşat Zor Erkut Küçük Gamze Yıldırım X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity Türk Oftalmoloji Dergisi x-linked retinoschisis consanguineous marriage cystoid macular edema macular atrophy optical coherence tomography |
| author_facet |
Mehmet Önen Kürşat Zor Erkut Küçük Gamze Yıldırım |
| author_sort |
Mehmet Önen |
| title |
X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity |
| title_short |
X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity |
| title_full |
X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity |
| title_fullStr |
X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity |
| title_full_unstemmed |
X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity |
| title_sort |
x-linked retinoschisis in females in a consanguineous family: a rare entity |
| publisher |
Galenos Yayinevi |
| series |
Türk Oftalmoloji Dergisi |
| issn |
1300-0659 2147-2661 |
| publishDate |
2020-08-01 |
| description |
X-linked juvenile retinoschisis (XLRS) is a disease considered characteristic for males. In this study we report a consanguineous family in which 3 daughters were diagnosed with XLRS. Typical signs of XLRS were detected in 2 girls, aged 4 and 15. Fundoscopic examination of the father and the oldest daughter (age 17) revealed bilateral atrophic macula and retinal thinning. Although rare and considered characteristic for males, XLRS can be seen in females in Middle-East countries that have a high rate of consanguineous marriage. It can be overlooked by ophthalmologists and these patients may be misdiagnosed. |
| topic |
x-linked retinoschisis consanguineous marriage cystoid macular edema macular atrophy optical coherence tomography |
| url |
http://www.oftalmoloji.org/archives/archive-detail/article-preview/x-linked-retinoschisis-in-females-in-a-consanguine/40093
|
| work_keys_str_mv |
AT mehmetonen xlinkedretinoschisisinfemalesinaconsanguineousfamilyarareentity AT kursatzor xlinkedretinoschisisinfemalesinaconsanguineousfamilyarareentity AT erkutkucuk xlinkedretinoschisisinfemalesinaconsanguineousfamilyarareentity AT gamzeyıldırım xlinkedretinoschisisinfemalesinaconsanguineousfamilyarareentity |
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1724603476593344512 |