/NMNAT1-related retinopathy

NMNAT1-related retinopathy

Rare Disease

MONDO:0800101

Also Known As

NMNAT1-related retinopathyLCA9Leber congenital amaurosis 9Leber congenital amaurosis caused by mutation in NMNAT1Leber congenital amaurosis type 9NMNAT1 Leber congenital amaurosisSHILCASHILCA Syndromespondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosisamaurosis congenita of Leber, type 9

Definition

A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.