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

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.