Abstrait

Hypomyelination and congenital cataract: An overview of clinical, neuroimaging and genetic findings.

glaucoma, cornea, cataracts, ocular oncology, uveitis, refractive and ophthalmic surgery

Hypomyelination and Congenital Cataract (HCC) is a rare autosomal recessive white matter disorder. It is characterized by the triad of bilateral congenital cataract, neurological impairment with peripheral neuropathy, and a typical hypomyelination pattern on brain magnetic resonance image. Most patients present with cataracts at birth or in the first month of life, followed by progressive neurologic impairment. In the presence of these clinical findings and characteristic brain magnetic resonance image features, HCC should be suspected, and mutation analysis of FAM126A should be performed. Genetic etiologies must be considered within the differential diagnosis in a patient with congenital cataracts and onset of progressive neurological impairment at the end of the first year of life.