- Subretinal fluid (HP:0031526, a Human Phenotype Ontology term): Fluid accumulating between the neuroretina and retinal pigment epithelium. Evidence: IEA. (OMIM:153700)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:153700)
- Visual impairment (HP:0000505, a Human Phenotype Ontology term): 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: IEA. (OMIM:153700)
- Cystoid macular degeneration (HP:0008028, a Human Phenotype Ontology term): A form of macular degeneration characterized by the presence of multiple cystoid spaces in the macula. Evidence: IEA. (OMIM:153700)
- 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: IEA. (OMIM:153700)
- 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: IEA. (OMIM:153700)
- Abnormal electroretinogram (HP:0000512, a Human Phenotype Ontology term): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: IEA. (OMIM:153700)
These phenotypes are associated with the disease vitelliform macular dystrophy 2 (OMIM:153700, an entry in Online Mendelian Inheritance in Man).