Though variety of ocular abnormalities might be present in several hereditary diseases some findings are essential for making the diagnosis.
Cystinosis | |
Cystinosis is accompanied by photophobia that results from corneal cystin deposits. Later in life, retinal blindeness may occur in some cases. |
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Wilson disease | |
The copper-colored ring at the periphery of the cornea, the Kayser-Fleischer ring, is pathognomonic of Wilson disease. |