Case
SR1202
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR1202
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
History
This 33 year old man first came to medical attention at age 20 when some retinal abnormalities were noticed incidentally during a routine eye exam. When he was 29, he was diagnosed with a CNV in the right eye and received a series of intravitreal injections over a two to three month period which improved the visual acuity in that eye.
Pedigree
| Age at visit: 33 years |
| Age at visit: 34 years |
| Age at visit: 35 years |
| Age at visit: 38 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Deletion Exon 12 | XL |