Phenotypes associated with the disease vitelliform macular dystrophy 3 (OMIM:608161):
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. Frequency: 0/1. (PMID:8485576)
- 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:608161)
- Metamorphopsia (HP:0012508): A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. Evidence: PCS. Frequency: 1/1. (PMID:8485576)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. (OMIM:608161)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 1/1. (PMID:8485576)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. Frequency: 1/1. Onset: Adult onset (HP:0003581). (PMID:8485576)
- Drusen (HP:0011510): Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye. Evidence: IEA. (OMIM:608161)
- Macular atrophy (HP:0007401): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: TAS. (OMIM:608161)
- Late young adult onset (HP:0025710): Onset of disease at an age of greater than or equal to 25 to under 40 years. Evidence: PCS. Frequency: 1/1. (PMID:8485576)
- Vitelliform macular lesion (HP:0007677): Egg yolk-like (vitelliform) maculopathy is a lesion caused by the accumulation of material, often lipofuscin, in the subretinal space underlying the macula. Lesions may be singular or multiple, and may be either sharply or poorly demarcated. Evidence: PCS. Frequency: 1/1. (PMID:8485576)
- Macular dystrophy (HP:0007754): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: IEA. (OMIM:608161)
- 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:8485576)