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.
American Journal of Ophthalmology
Feroze, A. H.,
Rizvi, Z. H.,
(2003). Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls. American Journal of Ophthalmology, 136(4), 767-769.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_surg_ophthalmol/33
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