Case
SR2332
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR2332
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
History
This 57 year old man had completely normal vision until age 16 when he began to experience reduced acuity and color vision. His acuity fell very gradually over the ensuing years, during which time his photophobia worsened.
Pedigree
| Age at visit: 57 years |
| Age at visit: 59 years |
| OD | |||
|---|---|---|---|
| Age at visit: 61 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