Prenatal diagnosis of aniridia

Objective: To use molecular genetic techniques to prenatally screen for ani ridia. Design: Case report. Methods: DNA was extracted from cultured fibroblasts obtained through amnio centesis. Two mutation detection methods, Ava1 restriction digestion and si ngle-strand conformational polymorphism electrophoresis, were used to scree n the PAX6 gene. Main Outcome Measurer The results from the amniocentesis sample were compar ed with DNA obtained from the affected father, firstborn infant, and unaffe cted mother to determine whether the fetus carried the PAX6 mutation. Results: DNA from the fetus demonstrated the same banding pattern as the af fected father and firstborn infant. Conclusions: The fetus carried the mutated PAX6 allele and was predicted to develop aniridia. This was later confirmed when the child was born. This c ase report illustrates an important use of genetic mutation screening in th e clinical setting. Ophthalmology 2000; 107:1153-1156 (C) 2000 by the Ameri can Academy of Ophthalmology.