SR1066

AD Cone and Cone Rod Dystrophy (IA1bii)

Male

Male

SR1066

AD Cone and Cone Rod Dystrophy (IA1bii)

Male

Male

Highlighted Images

Age at visit: 30 years
OD OS

History

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.
Refraction OD:     -5.25 +1.25 x 120
Refraction OS:     -4.25 +1.25 x 030

Pedigree

Teaching Points

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
Age at visit: 32 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Cone and Cone Rod Dystrophy GUCA1A Glu155Gly GAG>GGG   AD
Gene:
Allele 1:
Glu155Gly GAG>GGG
Allele 2:
 
Inheritance:
AD
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