Case
SR37
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR37
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
History
This 8 year old male had abnormal retinal pigmentation discovered OU during a routine examination.
| Color Vision: | Correctly identified the Ishihara control plate and 13/13 test plates, OU. |
|---|---|
| Refraction OD: | -1.75 +0.50 x 50 |
| Refraction OS: | -2.25 +0.50 x 154 |
Pedigree
Teaching Points
The clinical features favoring the diagnosis of X-linked choroideremia in this patient include nummular choroidal loss, normal caliber of the retinal arterioles, and a family history of males with severe vision loss on his mother's side of the family.
| Age at visit: 18 years |
| Age at visit: 21 years |
| Age at visit: 23 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Deletion Exons 1-2 | XL |