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Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis
Jodi A Dodds1, Anand K Srivastava, Kenton R Holden
1Department of Neurosciences, Medical University of South Carolina, Charleston, USA.
Insights
X-linked juvenile retinoschisis, a rare genetic eye disease, is caused by XLRS1 gene mutations. This study identified a specific mutation (Arg102Trp) in a Western European family, impacting visual acuity and causing social stigma.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- X-linked juvenile retinoschisis (XLRS) is a progressive vitreoretinal disorder affecting young males.
- Caused by mutations in the XLRS1 gene located at Xp22.2.
- Leads to decreased visual acuity and potential blindness.
Observation:
- A family of Western European ancestry with XLRS was studied.
- Two affected males carried a specific mutation: 304C-->T in exon 4 of the XLRS1 gene.
- This mutation results in an Arg102Trp amino acid substitution.
Findings:
- Affected males inherited the mutation from their unaffected carrier mothers.
- Two new female carriers were identified, highlighting typical X-linked inheritance patterns.
- Questionnaires revealed a significant psychologic and sociologic impact, including stigma, even in mild cases.
Implications:
- Genetic counseling is crucial for families with XLRS.
- Understanding the genotype-phenotype correlation aids in predicting disease severity.
- Addressing the psychosocial impact is essential for patient well-being.
Abstract:
X-linked juvenile retinoschisis is a rare progressive vitreoretinal degenerative process that appears in early childhood, results in decreased visual acuity and blindness (if severe), and is caused by various mutations within the XLRS1 gene at Xp22.2. We report an affected family of Western European ancestry with X-linked juvenile retinoschisis. The family was found to carry a 304C-->T substitution in exon 4 of the XLRS1 gene, resulting in an Arg102Trp amino acid substitution. Two of the four available clinical cases in this family were found to carry the mutation. All available mothers of affected males were found to be unaffected carriers of the mutation, a typical feature of X-linked diseases. Two new female carriers, sisters of affected males, were identified and counseled accordingly. Questionnaires on visual functioning were given to the affected family members to examine the psychologic and sociologic impact of X-linked juvenile retinoschisis, which documented an associated stigma even when affected with a "mild" phenotype.
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