NMNAT1-related retinopathy

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.

Also known as: NMNAT1-related retinopathy, LCA9, Leber congenital amaurosis 9, Leber congenital amaurosis caused by mutation in NMNAT1, Leber congenital amaurosis type 9, NMNAT1 Leber congenital amaurosis, SHILCA, SHILCA Syndrome

25 clinical trials for this condition and its sub-types, 0 tagged with NMNAT1-related retinopathy itself.