Conanguineou marriage reulting in homozygou occurrence of X-linked retinochii in girl

Purpoe To invetigate a family afflicted with X-linked retinochii and to determine the pedigree leading to uch an occurrence. Deign Obervational cae erie. Method Viual acuitie were meaured at The Aga Khan Univerity Hopital Ophthalmology clinic. lit-lamp examination, direct and indirect ophthalmocopie were performed on each of the even member of thi family. The pedigree wa etablihed by appropriate quetioning about the ret of their family. Reult The pedigree revealed the homozygoity of the four daughter for the XLR mutation borne out of the conanguineou marriage between an affected father and a carrier mother. Concluion Thi i the firt report howing that conanguineou marriage lead to homozygou pairing of XLR gene in female children, a concluded after a MEDLINE earch.