- Granular macular appearance (HP:0007793): Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula. Evidence: TAS. (OMIM:608051)
- Dyschromatopsia (HP:0007641): A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. Evidence: TAS. (OMIM:608051)
- Reduced visual acuity (HP:0007663). Evidence: TAS. (OMIM:608051)
- Perifoveal ring of hyperautofluorescence (HP:0030629). Evidence: TAS. (OMIM:608051)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. (OMIM:608051)
- Macular dystrophy (HP:0007754): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: TAS. (OMIM:608051)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: TAS. (OMIM:608051)
- 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: TAS. (OMIM:608051)
These phenotypes are associated with the disease retinal macular dystrophy type 2 (OMIM:608051).