- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: PCS. (PMID:22695961)
- Choriocapillaris atrophy (HP:0030491): Atrophy of the capillary lamina of choroid. Evidence: PCS. (PMID:22695961)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:22695961)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: PCS. (PMID:22695961)
These phenotypes are associated with the disease choroidal dystrophy, central areolar, 1 (OMIM:215500).