- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 3/6. (PMID:25227500)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 6/6. (PMID:25227500)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:25227500)
- 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: 6/6. (PMID:25227500)
- Perifoveal ring of hyperautofluorescence (HP:0030629). Evidence: PCS. Frequency: 1/6. (PMID:25227500)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: PCS. Frequency: 6/6. (PMID:25227500)
- 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: 3/6. (PMID:25227500)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 3/6. (PMID:25227500)
- Optic disc pallor (HP:0000543): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: PCS. Frequency: 1/6. (PMID:25227500)
- 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:25227500)
- Red-green dyschromatopsia (HP:0000642): Difficulty with discriminating red and green hues. Evidence: PCS. Frequency: 4/5. (PMID:25227500)
- Bull's eye maculopathy (HP:0011504): Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board. Evidence: PCS. Frequency: 2/4. (PMID:25227500)
These phenotypes are associated with the disease macular dystrophy with central cone involvement (OMIM:616170).