Phenotypes associated with the disease age related macular degeneration 1 (OMIM:603075):
- Macular drusen (HP:0030499): Drusen localted in the macula. Evidence: PCS. Onset: Late onset (HP:0003584). (PMID:15013873)
- Macular drusen (HP:0030499): Drusen localted in the macula. Evidence: PCS. Frequency: 10/10. (PMID:9715689)
- 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: IEA. Frequency: Very rare (HP:0040284). (OMIM:603075)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: PCS. Onset: Late onset (HP:0003584). (PMID:15013873)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 7/7. (PMID:9715689)
- Macular geographic atrophy (HP:0031609): Chronic progressive degeneration of the macula that can be seen as part of late-stage age-related macular degeneration (AMD). Evidence: PCS. Onset: Late onset (HP:0003584). (PMID:15013873)
- Macular geographic atrophy (HP:0031609): Chronic progressive degeneration of the macula that can be seen as part of late-stage age-related macular degeneration (AMD). Evidence: PCS. Frequency: 5/10. (PMID:9715689)
- 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: 18/20. (PMID:15013873;PMID:9715689)
- Macular hemorrhage (HP:0025574): Bleeding occurring within the macula lutea of the retina. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:603075)
- Foveal hypopigmentation (HP:0012643): Decreased amount of pigmentation in the fovea. Evidence: TAS. (OMIM:603075)
- 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:9715689)