How is Nance-Horan Syndrome diagnosed?

Nance-Horan Syndrome is a rare genetic disorder that primarily affects the development of the eyes, teeth, and facial features. Diagnosing this syndrome involves a comprehensive evaluation of an individual's medical history, physical examination, and specialized tests.

During the medical history assessment, the healthcare provider will inquire about any symptoms or abnormalities observed in the individual, as well as any family history of similar conditions. This information helps in identifying potential patterns and determining the likelihood of Nance-Horan Syndrome.

The physical examination focuses on evaluating the characteristic features associated with Nance-Horan Syndrome. These may include dental abnormalities, such as missing or misshapen teeth, as well as facial dysmorphisms like a long face, prominent nose, or wide-set eyes. Additionally, ocular manifestations like cataracts, microphthalmia (small eyes), or strabismus (misalignment of the eyes) may be present.

Specialized tests play a crucial role in confirming a diagnosis of Nance-Horan Syndrome. Genetic testing is typically performed to identify mutations in the NHS gene, which is responsible for the syndrome. This test involves analyzing a blood or saliva sample to detect specific genetic changes associated with the condition. Genetic testing can provide definitive confirmation of Nance-Horan Syndrome and help differentiate it from other similar disorders.

Furthermore, ophthalmological examinations are essential to assess the extent of eye abnormalities. These may include visual acuity tests, slit-lamp examination, and electroretinography (ERG) to evaluate the function of the retina.

It is important to note that the diagnosis of Nance-Horan Syndrome requires the expertise of various healthcare professionals, including geneticists, ophthalmologists, and dentists. Collaborative efforts and a multidisciplinary approach are crucial in accurately diagnosing and managing this rare genetic disorder.