Case
SR47
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR47
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
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: 40 years |
| Age at visit: 43 years |
| Age at visit: 44 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 |
Disease:
Gene:
Allele 1:
Glu155Gly GAG>GGG
Allele 2:
Inheritance:
AD