- Choroidal neovascularization (HP:0011506): Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. Evidence: PCS. Frequency: 1/4. Onset: Young adult onset (HP:0011462). (PMID:24899048)
- Macular degeneration (HP:0000608): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: PCS. Frequency: 4/4. (PMID:24899048)
- Reduced visual acuity (HP:0007663). Evidence: PCS. (PMID:24899048)
- 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:24899048)
- Abnormal skeletal morphology (HP:0011842): An abnormality of the form, structure, or size of the skeletal system. Evidence: PCS. Frequency: 0/4. (PMID:24899048)
These phenotypes are associated with the disease macular degeneration, early-onset (OMIM:616118).