The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis.

X-linked juvenile retinoschisis (XLRS) is an inherited retinal disease caused by mutations in the RS1 gene, resulting in splitting of the retinal layers and visual disturbances. To provide insights on this disease in our cohort, genetic examination, clinical presentation, and functional analysis were performed. We observed three main RS1 mutations in our cohort of six unrelated patients: RS1-D126G, RS1-R209H, and RS1-R213W.

Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study.

Retinitis pigmentosa (RP) affects 1:5000 individuals worldwide. Interestingly, variations in 271 RP-related genes are indicated to vary among populations. We aimed to evaluate the genetic prevalence and phenotypic profiles of Thai patients with RP.

Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGR-Associated Retinal Disorder.

X-linked retinitis pigmentosa (XLRP), a rare form of retinitis pigmentosa (RP), is predominantly caused by mutations in the retinitis pigmentosa GTPase regulator () gene. Affected males often present with severe phenotypes and early disease onset. In contrast, female carriers are usually asymptomatic or show stationary phenotypes.

Autoantibody profiles and clinical association in Thai patients with autoimmune retinopathy.

Autoimmune retinopathy (AIR) is a rare immune-mediated inflammation of the retina. The autoantibodies against retinal proteins and glycolytic enzymes were reported to be involved in the pathogenesis. This retrospective cohort study assessed the antiretinal autoantibody profiles and their association with clinical outcomes of AIR patients in Thailand.