Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in atrophy of the retinal pigment epithelium and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years. Autosomal-recessive cases that are caused by mutations in GUCY2D have been reported. However, in most cases, CACD is inherited as an autosomal-dominant trait. Autosomal-dominant CACD is genetically heterogeneous but mutations in the peripherin/RDS gene (PRPH2) seem to be the most common cause. The PRPH2 encodes a photoreceptor-specific glycoprotein. It is believed to play an important role in the assembly, orientation, and physical stability of photoreceptor outer segment disks.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the choroid
9B61 Choroidal dystrophy
H01768 Central areolar choroidal dystrophy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06541 Cytoskeleton in neurons
H01768 Central areolar choroidal dystrophy
