Pattern macular dystrophies are usually inherited as autosomal dominant conditions. Several mutations in separate genes have been linked to these disorders suggesting that this group is genetically as well as clinically heterogeneous.
Some families have mutations in the photoreceptor peripherin gene (PRPH2) at 6p21.1-cen (169150) whose gene product is active in the retina. It 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 coded by 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.
A locus at 5q21.2-q33.2 containing heterozygous CTNNA1 mutations has been linked to a pattern dystrophy (Macular Dystrophy, Patterned 2) (608970).
As many as 25% of patients with myotonic dystrophy 1 (160900) and myotonic dystrophy 2 (602668) have a patterned pigmentary maculopathy.