Abstract
When congenital cataract is present, the differential diagnosis comprises infectiological, metabolic, and genetic disorders. A definitive classification can often only be made when additional symptoms develop. We present a girl of Roma origin with bilateral congenital cataract and progressive neurodevelopmental retardation who was diagnosed with Congenital Cataract, Facial Dysmorphism, and Neuropathy (CCFDN) syndrome. This autosomal recessive disorder is a clinical differential diagnosis of Marinesco-Sjögren syndrome. It has been diagnosed in Roma and Sinti families only and represents one of the most frequent causes of congenital cataract in this ethnic group. It should therefore be sought out specifically by genetic testing of the CTDP1 gene when the adequate clinical picture is present.
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