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.
Age at visit: 33 years |
Age at visit: 34 years |
Age at visit: 35 years |
Age at visit: 38 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
XL Choroideremia | CHM | Deletion Exon 12 | XL |