Diseases of the eye and adnexa
Disorders of choroid and retina
X-Linked
Xq21.2
Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. The characteristic lesion of choroideremia is chorioretinal scalloped atrophy in the midperipheral fundus, with preservation of the macula. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 303100.1 | Saudi Arabia | Unknown | No | Choroideremia Choroideremia  | NM_000390.4:c.1144G>T | Homozygous | Autosomal, Recessive | Patel et al. 2016 |