A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2154809
Abstract: ABSTRACT Background X-linked retinoschisis (XLRS) is a rare retinal dystrophy due to pathogenic variants in the RS1 gene. The hallmark of the disease is a foveal spoke-wheel appearance. The purpose of this report is to… read more here.
Keywords: xlrs; retinal detachment; linked retinoschisis; patient ... See more keywords
Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis.
Sign Up to like & getrecommendations! Published in 2025 at "Acta ophthalmologica"
DOI: 10.1111/aos.70036
Abstract: PURPOSE X-linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).… read more here.
Keywords: years iqr; xlrs; vitreoretinal complications; linked retinoschisis ... See more keywords