PURPOSE: To document intrafamilial and interocular phenotypic variability of autosomal dominant cataract (ADC). DESIGN: Prospective observational case series. METHODS: We performed ophthalmologic examination in four Chilean ADC families. RESULTS: The families exhibited variability with respect to morphology, location with the lens, color and density of cataracts among affected members. We documented asymmetry between eyes in the morphology, location within the lens, color and density of cataracts, and a variable rate of progression. CONCLUSIONS: The cataracts in these families exhibit wide intrafamilial and interocular phenotypic variability, supporting the premise that the mutated genes are expressed differentially in individuals and between eyes; other genes or environmental factors may be the bases for this variability. Marked progression among some family members underscores the variable clinical course of a common mutation within a family. Like retinitis pigmentosa, classification of ADC will be most useful if based on the gene and specific mutation.
PURPOSE: To document intrafamilial and interocular phenotypic variability of autosomal dominant cataract (ADC). DESIGN: Prospective observational case series. METHODS: We performed ophthalmologic examination in four Chilean ADC families. RESULTS: The families exhibited variability with respect to morphology, location with the lens, color and density of cataracts among affected members. We documented asymmetry between eyes in the morphology, location within the lens, color and density of cataracts, and a variable rate of progression. CONCLUSIONS: The cataracts in these families exhibit wide intrafamilial and interocular phenotypic variability, supporting the premise that the mutated genes are expressed differentially in individuals and between eyes; other genes or environmental factors may be the bases for this variability. Marked progression among some family members underscores the variable clinical course of a common mutation within a family. Like retinitis pigmentosa, classification of ADC will be most useful if based on the gene and specific mutation.
Authors: D Gill; R Klose; F L Munier; M McFadden; M Priston; G Billingsley; N Ducrey; D F Schorderet; E Héon Journal: Invest Ophthalmol Vis Sci Date: 2000-01 Impact factor: 4.799
Authors: M H Scott; J F Hejtmancik; L A Wozencraft; L M Reuter; M M Parks; M I Kaiser-Kupfer Journal: Ophthalmology Date: 1994-05 Impact factor: 12.079
Authors: K P Burdon; M G Wirth; D A Mackey; I M Russell-Eggitt; J E Craig; J E Elder; J L Dickinson; M M Sale Journal: J Med Genet Date: 2004-08 Impact factor: 6.318
Authors: Olga Messina-Baas; Manuel L Gonzalez-Garay; Luz M González-Huerta; Jaime Toral-López; Sergio A Cuevas-Covarrubias Journal: Mol Syndromol Date: 2016-04-14