Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
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.
No clinical trials have been registered for NMNAT1-related retinopathy.
7 publications have been identified in PubMed for NMNAT1-related retinopathy. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (29%), and Gene Therapy / Novel Therapeutics (29%).
Zhang H (2026). [PMID: 41922335](https://pubmed.ncbi.nlm.nih.gov/41922335/). *Cell Death Dis*. [Gene Therapy / Novel Therapeutics]
Li Q (2026). [PMID: 41328347](https://pubmed.ncbi.nlm.nih.gov/41328347/). *Theranostics*. [Review / Meta-Analysis]
Elsayed MEAA (2026). [PMID: 41495677](https://pubmed.ncbi.nlm.nih.gov/41495677/). *BMC Ophthalmol*. [Case Report / Case Series]
Zhang H (2025). [PMID: 40501637](https://pubmed.ncbi.nlm.nih.gov/40501637/). *bioRxiv*. [Gene Therapy / Novel Therapeutics]
Hasegawa K (2024). [PMID: 38928090](https://pubmed.ncbi.nlm.nih.gov/38928090/). *Int J Mol Sci*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC
Common questions about NMNAT1-related retinopathy
Kuribayashi H (2024). [PMID: 39446354](https://pubmed.ncbi.nlm.nih.gov/39446354/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]