NMNAT1-related retinopathy

NMNAT1-related retinopathy is a rare eye condition that usually appears early in life. It is caused by changes in both copies of the NMNAT1 gene, which leads to severe vision loss. In some people with this condition, additional issues have been reported, such as problems with bone growth (spondyloepiphyseal dysplasia), hearing loss, and intellectual disability. However, more research is needed to fully understand the connection between these features.

The primary symptom is severe vision loss that often begins in infancy. Some individuals may also experience sensorineural hearing loss and developmental delays. There have been reports of skeletal abnormalities associated with the condition. It is important to note that not all people with this condition may experience every symptom.

This condition is caused by biallelic variants or mutations in the NMNAT1 gene. 'Biallelic' means that both copies of the gene have changes that affect how the gene functions. These genetic changes disrupt normal eye development and function, leading to the symptoms observed.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Research into NMNAT1-related retinopathy is ongoing. Scientists are working to better understand how mutations in the NMNAT1 gene lead to vision loss and whether additional symptoms such as hearing loss and developmental delays are directly related. Future studies may help clarify the full range of clinical features and improve our understanding of this rare condition.