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J Med Genet. 2005 Jun;42(6):e35.

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

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.

PMID:
15937075
PMCID:
PMC1736077
DOI:
10.1136/jmg.2004.029769
[Indexed for MEDLINE]
Free PMC Article
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