X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity
Küçük Resim Yok
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish Ophthalmological Soc
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
X-linked retinoschisis, consanguineous marriage, cystoid macular edema, macular atrophy, optical coherence tomography
Kaynak
Turk Oftalmoloji Dergisi-Turkish Journal of Ophthalmology
WoS Q Değeri
N/A
Scopus Q Değeri
N/A
Cilt
50
Sayı
4
