The authors present the clinical and molecular genetic evaluations performed on a large Iranian pedigree with 26 aniridia affected patients in four generations and some with retinal detachment. Members of the family affected with aniridia were invited to participate after which they underwent comprehensive ophthalmic comprehensive examination. Genetic DNA was extracted from peripheral blood leukocytes using the standard salting-out method, and all PAX6 exons and their flanking regions were amplified by polymerase chain reaction (PCR) and subsequently sequenced with the Sanger protocol. Total ribonucleic acid (RNA) extraction was performed from fresh blood leukocytes of the patients and their patients and their unaffected family members (n=3 for each group) using AccuZol total RNA extraction kit according to manufacturer’s instructions. Twelve available affected patients of the pedigree were diagnosed with isolated aniridia without any systemic involvement. All examined family members presented with a severe visual loss in both eyes. It has been observed that variable phenotypic manifestations (aniridia with / without Rhematogenous retinal detachment), occurs in the affected individuals with the same causative mutation. The study could be relevant just for making the clinician aware of doing fundoscopy on every patient with aniridia to exclude retinal involvement.
Congenital aniridia with or without retinal detachment
Reviewed by Patty Mopamboli Mboli
A novel PAX6 mutation causes congenital aniridia with or without retinal detachment.
