Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ocular abnormalities

Though variety of ocular abnormalities might be present in several hereditary diseases some findings are essential for making the diagnosis.

Diseases

Cystinosis
Cystinosis is accompanied by photophobia that results from corneal cystin deposits. Later in life, retinal blindeness may occur in some cases.
Wilson disease
The copper-colored ring at the periphery of the cornea, the Kayser-Fleischer ring, is pathognomonic of Wilson disease.
Update: June 23, 2016