Phenotypes associated with the disease vitelliform macular dystrophy 5 (OMIM:616152, an entry in Online Mendelian Inheritance in Man):
- Middle age onset (HP:0003596, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 5/8. (PMID:28644393)
- Late onset (HP:0003584, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 2/8. (PMID:28644393)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/8. (PMID:28644393)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 8/8. (PMID:28644393)
- Central scotoma (HP:0000603, a Human Phenotype Ontology term): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. (OMIM:616152)
- Vitelliform macular lesion (HP:0007677, a Human Phenotype Ontology term): 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: 1/2. (PMID:25085631)
- Macular dystrophy (HP:0007754, a Human Phenotype Ontology term): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: PCS. Frequency: 1/2. (PMID:25085631)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:25085631)
- Moderately reduced visual acuity (HP:0030515, a Human Phenotype Ontology term): Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1. Evidence: PCS. Frequency: 1/2. (PMID:25085631)