X linked retinoschisis.

An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis

“…2 Full-field electroretinograms (ERGs) typically show evidence of generalised inner retinal dysfunction. 1,2,4 In this report, we describe a child with an RS1 mutation and an unusual inner retinal sheen with none of the typical fundus features or OCT findings associated with XLRS.…”

“…1,2 The disorder is associated with mutations in the RS1 gene. 3 The usual clinical presentation is with reduced visual acuity, strabismus, or less commonly vitreous haemorrhage.…”

X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?

“…Because of this overlapping clinical presentation, the pathology contributed by each gene is perhaps not obvious clinically. It is also noteworthy that the affected maternal grandfather, who had mutations in both genes, did not have retinal detachment until his 40s, which is generally the case with RS gene mutations (George et al 1995(George et al , 1996. On the other hand, the affected proband showed retinal pathology at the age of 2 years.…”

Retinosquises

“…A deteriorização na acuidade é maior a partir dos 40 anos (tendendo a estabilidade enquanto estiverem presentes os cistos centrais), obviamente mais precoce naqueles com estrabismo, nistagmo e leucocoria. Costuma evoluir durante os primeiros 20 anos, após o que frequentemente estaciona, retomando a piora funcional nos idosos, mas convém considerá-la como uma doença pouco previsível (74)(75)(76)(77)(78) .…”

“…São de extensões variáveis (equador ao disco), sendo peculiar na forma plana a preservação campimétrica. Regressões espontanêas são típicas (75)(76)(77)(78)(79)(80) .…”