Title

Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls

Document Type

Article

Department

Ophthalmology

Abstract

PURPOSE: To investigate a family afflicted with X-linked retinoschisis and to determine the pedigree leading to such an occurrence.Design: Observational case series.Methods: Visual acuities were measured at The Aga Khan University Hospital Ophthalmology clinic. Slit-lamp examination, direct and indirect ophthalmoscopies were performed on each of the seven members of this family. The pedigree was established by appropriate questioning about the rest of their family.Results: The pedigree revealed the homozygosity of the four daughters for the XLRS mutations borne out of the consanguineous marriage between an affected father and a carrier mother.CONCLUSIONS: This is the first report showing that consanguineous marriages lead to homozygous pairing of XLRS genes in female children, as concluded after a MEDLINE search.

Publication

American Journal of Ophthalmology

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