Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation

ConclusionThis case shows that aCDH3 mutation besides macula dystrophy can cause widespread cone-rod dystrophy with hypotrichosis without any other pathology besides hypoplastic nails. This points to a common pathway of hair growth and photoreceptor development that can be disturbed by aCDH3 mutation (c.1508G>A; p.Arg503His) located in the EC4 repeat region of the gene.
Source: Documenta Ophthalmologica - Category: Opthalmology Source Type: research