- Peripheral retinal atrophy (HP:0200070): A nonspecific term denoting wasting, especially as a result of degeneration, of the peripheral retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: TAS. (OMIM:136550)
- Abnormal macular pigmentation (HP:0008002): Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina. Evidence: TAS. (OMIM:136550)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:1685483)
- 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: PCS. Frequency: 0/75. (PMID:1685483)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 6/6. (PMID:27777503)
- 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: TAS. (OMIM:136550)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. (OMIM:136550)
- Macular dystrophy (HP:0007754): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: PCS. Frequency: 6/6. (PMID:27777503)
- 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:27777503)
These phenotypes are associated with the disease North Carolina macular dystrophy (OMIM:136550).