RESUMO
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.
