Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2005 Jun;42(6):e35.
doi: 10.1136/jmg.2004.029769.

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients

D Pimenides, N D L George, J R W Yates, K Bradshaw, S A Roberts, A T Moore, D Trump

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients

D Pimenides et al. J Med Genet. 2005 Jun.

Abstract

Background: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation spectrum is large and the phenotype variable.

Aim: To determine whether there is a correlation between mutation type and disease severity.

Methods: We identified the causative mutation in 86 affected patients and examined each of these patients in detail. Different categories of mutation were compared for each phenotypic characteristic.

Results: We found a reduction in visual acuity with increasing age and worsening macular pathology in patients over 30 years old (p < or = 0.001), but there was no correlation between mutation type and severity of disease. Furthermore, we found a wide variation in phenotype even within families.

Conclusions: Identifying the causative mutation in patients with X-linked retinoschisis is helpful in confirming diagnosis and in counselling of family members but cannot be used to predict prognosis for an individual patient.

PubMed Disclaimer

Publication types