Case
SR2788
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2788
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Highlighted Images
| Age at visit: 63 years | OD | OS |
|---|---|
History
This 63 year old man had normal vision at age 5 but began loosing acuity toward the end of his first decade of life. When first seen at our institution at age 37 he hand motions acuity OU. His acuity fell to light perception at age 40. He lost all perception of light at age 65, he then died at age 68.
Pedigree
| Age at visit: 44 years |
| Age at visit: 63 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | IVS14+1 G>C | Phe1440 del1ggcT | AR |
Disease:
Gene:
Allele 1:
IVS14+1 G>C
Allele 2:
Phe1440 del1ggcT
Inheritance:
AR