Case
SR988
Student Mode
Occult Macular Dystrophy (IIE)
Female
Female
Hidden
SR988
Student Mode
Occult Macular Dystrophy (IIE)
Female
Female
History
This 38 year old woman has had subnormal visual acuity since age 9. She is somewhat photophobic. Two paternal relatives carry the diagnosis of Leber Hereditary Optic Neuropathy.
Pedigree
| Age at visit: 33 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Occult Macular Dystrophy | RP1L1 | Arg45Trp CGG>TGG | AD |