This is a clinically and genetically heterozygous disorder. Multiple mutations in the PRPH2 gene (6p21.1) have been identified in this condition. Some of the clinical variation may be mutation-specific.
For a somewhat similar disorder see choroidal dystrophy, central areolar 1 (215500).
CACD is a genetically heterogeneous disorder with mutations in several genes responsible. The majority of patients have one of several mutations in the PRPH2 gene (6p21.1-cen) and the inheritance pattern seems to be autosomal recessive (CACD2). Other family trees in which mutations in PRPH2 were excluded suggest autosomal dominant inheritance (CACD3; 613144).
The gene product of PRPH2 is important to the integrity and stability of the structures that contain light-sensitive pigments (e.g., photoreceptors). More than 100 mutations have been identified. The resultant phenotype can be highly variable, even within members of the same family but most affected individuals have some degree of pigmentary retinopathy within the macula or throughout the posterior pole.
The altered gene product resulting from mutations in PRPH2 often leads to symptoms beginning in midlife as a result of the slow degeneration of photoreceptors. This database contains at least 11 disorders in which PRPH2 mutations have been found.
