Case
SR1868
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR1868
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
History
This 35-year-old man has been moderately near sighted since childhood but was correctable to 20/20 until age 10 or 12. He experienced a slow reduction of acuity in the 2nd decade of life, accompanied by photophobia and some difficulty discriminating colors. He sees normally in dim light.
Pedigree
| Age at visit: 35 years |
| Age at visit: 38 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Cone and Cone Rod Dystrophy | GUCA1A | Leu151Phe CTC>TTC | AD |
Disease:
Gene:
Allele 1:
Leu151Phe CTC>TTC
Allele 2:
Inheritance:
AD