Case
SR2179
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2179
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 12 year old boy has had some reduction in visual acuity and photophobia for the past two years.
Pedigree
| Age at visit: 12 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA | Trp821Arg TGG>AGG | AR |
Disease:
Gene:
Allele 1:
Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA
Allele 2:
Trp821Arg TGG>AGG
Inheritance:
AR