NMNAT1-related retinopathy
MONDO:0800101A 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.
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Browse by category →Sub-types of NMNAT1-related retinopathy
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Leber congenital amaurosis 9 0 trials
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VR headsets tested as a possible treatment for blindness
Disease control Stopped earlyThis study tested whether using a virtual reality headset for one-hour sessions could help regenerate damaged optic nerves and improve vision in people with glaucoma or other retinal diseases. The idea came from promising results in rodents. However, the trial was terminated earl…
Sponsor: Stanford University • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Scientists dig into DNA to unravel rare eye disorders
Knowledge-focused Stopped earlyThis study looked at over 100 people with inherited retinal dystrophies, a group of rare eye diseases that can cause vision loss. Researchers collected genetic and eye exam data to find links between specific gene mutations and symptoms. The goal was to better understand these di…
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC