Choroideremia (CHM) is an X-linked recessive eye disease causing degeneration of the choriocapillaris, retinal pigment epithelium, and photoreceptors, leading to severe visual impairment by adulthood. The pathogenetic mechanisms are unknown. The first clinical manifestation in CHM is night blindness during early adulthood followed by reduction of central vision and constriction of visual fields. The choroid and retina undergo complete atrophy. Heterozygous female carriers have no visual defect but often show striking funduscopic changes such as irregular pigmentation and atrophy around the optic disc.
Related categories 3
Choroideremia support Group coordinated by William Tucker.
Choroideremia Research Foundation Inc
A support group for people with Choroideremia and their families that has grown into a foundation dedicated to finding a cure or treatment.
Online Mendelian Inheritance in Man
Detailing clinical features, nomenclature, diagnosis, population and molecular genetics, pathogenesis, and references.
Last update:September 26, 2015 at 3:48:27 UTC