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Ophthalmology and Visual Sciences

Case Category Index

Case Index: Genetic Eye Diseases


Autosomal Dominant Optic Atrophy: 47-year-old female with chronic, mildly subnormal vision

Best Vitelliform Macular Dystrophy: 30-year-old female referred for bilateral macular lesions.

Homocystinuria: 18-year-old male presented to clinic for regular monitoring of ocular manifestations of methionine synthase deficiency type homocystinuria, specifically cobalamin deficiency of the Cb1G subtype.

Juvenile open-angle glaucoma: 22-year-old Caucasian female referred in 1990 for evaluation of elevated intraocular pressure (IOP)

Lattice Corneal Dystrophy Type II – Meretoja's Syndrome: patient with anterior stromal corneal dystrophy, progressive decline in vision with glare

Leber Hereditary Optic Neuropathy:  A 17-year-old male presents with progressive, painless, bilateral vision loss

Malattia Leventinese (Familial Dominant Drusen): 30-year-old female with drusen

Pattern Dystrophy Associated with Myotonic Dystrophy: 56-year-old female presented with a one-year history of increasingly distorted vision OS described as "crinkled"

RPE65-associated Leber Congenital Amaurosis

Unilateral Retinitis Pigmentosa: Visual field changes in a 31-year-old female


Case Category Index