SR47

AD Cone and Cone Rod Dystrophy (IA1bii)

Male

Male

SR47

AD Cone and Cone Rod Dystrophy (IA1bii)

Male

Male

Highlighted Images

Age at visit: 36 years
OD OS

History

This 36 year old man had high myopia in his first decade of life. He was diagnosed with type 1 diabetes at age 9. His acuity gradually declined between his mid teens and mid 30's and he lost his drivers license at age 35. He has some difficulty with color vision, but only mild photophobia.

Pedigree

Age at visit: 36 years
Age at visit: 38 years
Age at visit: 40 years
Age at visit: 42 years
Age at visit: 43 years
Age at visit: 44 years
Age at visit: 48 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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