Late ophthalmology findings in a X-linked juvenile retinoschisis patient / Achados oftalmológicos tardios em um paciente portador de retinosquise juvenil ligada ao cromossomo X
Rev. bras. oftalmol
; 80(1): 59-62, jan.-fev. 2021. graf
Article
ي En
| LILACS
| ID: biblio-1251326
المكتبة المسؤولة:
BR1.2
ABSTRACT
ABSTRACT X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of life and complications like retinal detachment and vitreous hemorrhage. Herein, we present late ophthalmology findings in a XLRS patient.
RESUMO
RESUMO A retinosquise juvenil ligada ao cromossomo X (XLRS) é uma degeneração vitreorretiniana causada por mutações no gene RS1, geralmente caracterizada por maculopatia bilateral e retinosquise periférica, levando à perda visual progressiva durante as primeiras 2 décadas de vida e complicações como descolamento de retina e hemorragia vítrea. Apresentamos aqui achados oftalmológicos tardios em um paciente com XLRS.
Key words
النص الكامل:
1
الفهرس:
LILACS
الموضوع الرئيسي:
Retinoschisis
/
Genetic Diseases, X-Linked
/
Tomography, Optical Coherence
نوع الدراسة:
Diagnostic_studies
المحددات:
Humans
/
Male
اللغة:
En
مجلة:
Rev. bras. oftalmol
موضوع المجلة:
OFTALMOLOGIA
السنة:
2021
نوع:
Article