Nance-Horan Syndrome is a rare genetic disorder that primarily affects the development of the eyes and teeth. It is characterized by a range of symptoms including severe nearsightedness (myopia), clouding of the lens in the eye (cataracts), and abnormal spacing between the teeth (odontogenic anomalies).
Individuals with Nance-Horan Syndrome may also experience other eye abnormalities such as strabismus (crossed or misaligned eyes), reduced visual acuity, and sensitivity to light. Additionally, they may have distinctive facial features like a long face, prominent nose, and a high nasal bridge.
This syndrome is caused by mutations in the NHS gene, which plays a crucial role in eye and tooth development. It follows an X-linked inheritance pattern, meaning it primarily affects males, while females are typically carriers of the gene mutation.
Diagnosis of Nance-Horan Syndrome is based on clinical evaluation, genetic testing, and family history. While there is no cure for this condition, management focuses on treating the specific symptoms. This may involve corrective lenses, cataract surgery, and dental interventions to address tooth abnormalities.