loading...| Preferred Name |
Choroideremia |
|
| Synonyms |
CHM |
|
| Definitions |
(CHM) - An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. |
|
| ID |
http://identifiers.org/omim/303100 |
|
| altLabel |
CHM |
|
| definition |
(CHM) - An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. |
|
| id |
OMIM:303100 |
|
| notation |
OMIM:303100 |
|
| prefLabel |
Choroideremia |
|
| subClassOf |