Results 41 to 50 of about 189,868 (219)
Late ophthalmology findings in a X-linked juvenile retinoschisis patient [PDF]
Revista Brasileira de Oftalmologia, 2021 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 ...
Paulo Rodolfo Tagliari Barbisan +1 more
doaj +1 more source
Frontiers in Medicine, 2023 X-linked retinoschisis is more common in male children and rare in females. Clinically, male patients mainly present with early onset visual impairment or vision loss, and retinal retinoschisis due to division of the inner retina.
Shu Liu +11 more
doaj +1 more source
Ophthalmology Retina, 2022 PURPOSE To evaluate the safety and efficacy of rAAV2tYF-CB-hRS1, a recombinant adeno-associated virus vector expressing retinoschisin (RS1), in individuals with retinal disease caused by mutations in the RS1 gene.
M. Pennesi +8 more
semanticscholar +1 more source
X-linked retinoschisis: an update [PDF]
Journal of Medical Genetics, 2006 X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secreting retinal protein, retinoschisin ...
Sikkink, Stephen K. +4 more
openaire +3 more sources
X-linked Juvenile Retinoschisis in a Young Female
Journal of Nepal Health Research Council, 2022 X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical carbonic-anhydrase inhibitors.
Sudha Ranabhat +2 more
doaj +1 more source
Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis [PDF]
, 2017 The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure.
Colavito, Davide +7 more
core +1 more source
Bilateral macular holes in X-linked retinoschisis: Now the spectrum is wider
Indian Journal of Ophthalmology, 2011 Bilateral occurrence of macular hole in X-linked retinoschisis is an extremely rare event. Spectral domain optical coherence tomography (OCT) findings revealed that formation of a macular hole is secondary to the retinoschisis process alone.
Manoj Gautam +2 more
doaj +1 more source
Peripheral fundus findings in X-linked retinoschisis [PDF]
, 2017 BACKGROUND/AIMS: Vitreous haemorrhage (VH) and retinal detachment (RD) cause a precipitous decline in vision in a subset of patients with X-linked retinoschisis (XLRS), an otherwise a slowly progressive condition.
Ali, N +3 more
core +1 more source
British Journal of Ophthalmology, 1995 X-linked retinoschisis (MIM#312700) is linked to mutations in RS1 encoding retinoschisin a protein critical for cell-cell adhesion and intercellular matrix interactions. It is a rare inherited disorder with a prevalence estimated between 1/5,000 and 1/20,000, affecting male subjects with female carriers being asymptomatic with only few reports of ...
N D, George, J R, Yates, A T, Moore
openaire +2 more sources