Case
SR2043
Student Mode
Macular Disease (II)
Male
Male
Hidden
SR2043
Student Mode
Macular Disease (II)
Male
Male
History
This 38 year old man first noticed poor vision in dim light when he was five years old. His visual acuity began to fall in his early 30's.
Pedigree
| Age at visit: 38 years |
| Age at visit: 40 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Macular Disease | WDR19 | His344Arg CAT>CGT | Ser485Ile AGT>ATT | AR |
Disease:
Gene:
Allele 1:
His344Arg CAT>CGT
Allele 2:
Ser485Ile AGT>ATT
Inheritance:
AR