Autoomal Dominant Cataract: Intrafamilial Phenotypic Variability, Interocular Aymmetry, and Variable Progreion in Four Chilean Familie

Purpoe To document intrafamilial and interocular phenotypic variability of autoomal dominant cataract (ADC). Deign Propective obervational cae erie. Method We performed ophthalmologic examination in four Chilean ADC familie. Reult The familie exhibited variability with repect to morphology, location with the len, color and denity of cataract among affected member. We documented aymmetry between eye in the morphology, location within the len, color and denity of cataract, and a variable rate of progreion. Concluion The cataract in thee familie exhibit wide intrafamilial and interocular phenotypic variability, upporting the premie that the mutated gene are expreed differentially in individual and between eye; other gene or environmental factor may be the bae for thi variability. Marked progreion among ome family member undercore the variable clinical coure of a common mutation within a family. Like retiniti pigmentoa, claification of ADC will be mot ueful if baed on the gene and pecific mutation.