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Autosomal dominant cataract (ADC; OMIM #604219) To date two papers have reported pathogenic mutations associated with the BFSP2 gene. Autosomal dominant juvenile-onset cataracts segregated in a multigenerational pedigree where the lens of the eye was clear at birth but gradually developed opacities in the second and third decades of life. The second family was reported with clinically described congenital cataracts. Affected members of the family had congenital nuclear, sutural, and stellate or spoke-like cortical cataracts that varied in severity among different individuals. The mildest expression of the cataract was that of spoke-like anterior and posterior subcapsular cortical opacities with a ground-glass appearance throughout the cataract and, most notably, the radially oriented fine vacuoles. Associated type VI intermediate filament proteins: CP49/phakinin Other associated intermediate filament proteins: vimentin [Refs] Autosomal recessive cataract Associated type VI intermediate filament proteins: filensin/CP115 [Refs]
This page was last modified: April 17 2009 14:28:37. |
