Congenital Cataracts, Facial Dysmorphism, and Neuropathy: Two Affected Siblings in the United Kingdom

Abstract

Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome is a rare autosomal recessive disorder with multisystem involvement. The clinical features include cataracts with other ocular features, mild facial dysmorphism, and peripheral neuropathy with cognitive delay and hypogonadism. Diagnosis is mainly clinical with supportive evidence by electrophysiological studies and can be confirmed by identification of homozygous carboxy terminal domain phosphatase 1 ( CTDP1 ) gene mutation. We investigated two siblings of a European Gypsy family where the parents are distant cousins who had a strong family history of cataracts and motor difficulties. Both siblings had bilateral congenital cataracts, delayed motor development, and subtle dysmorphic features with wasting of calf muscles. The presence of demyelinating neuropathy and homozygous IVS6+389C>T mutation located in CTDP1 confirmed CCFDN syndrome. To our knowledge, there are no reported cases in the United Kingdom. These two siblings were affected with this rare disorder with different severity.