This 30 year old man experienced gradually decreasing visual acuity and increasing photophobia beginning at around ten years of age. As a young child, his best corrected visual acuity was near normal (20/30 OU).
Color Vision: | Could see the control pseudoisochromatic plate but none of the test plates with either eye. |
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Refraction OD: | -5.25 +1.25 x 120 |
Refraction OS: | -4.25 +1.25 x 030 |
The clinical features supporting the diagnosis of autosomal dominant cone dystrophy in this patient include: reduced acuity and photophobia as his earliest symptoms; a bull's eye appearance of the fovea with a relatively normal fundus appearance more anteriorly; loss of foveal photoreceptors on OCT; global depression of the Goldmann visual field (complete loss of the I2e isopter); and, a three generation family history of similarly affected individuals with some male to male transmission.
Age at visit: 30 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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AD Cone and Cone Rod Dystrophy | GUCA1A | Glu155Gly GAG>GGG | AD |