- Reticular retinal dystrophy (HP:0007913): A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation. Evidence: IEA. (OMIM:169150)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:169150)
- Choroidal neovascularization (HP:0011506): Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:169150)
- Dark choroid (HP:0025148): A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). Evidence: PCS. Frequency: 2/6. (PMID:7710395)
- Metamorphopsia (HP:0012508): A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:169150)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:169150)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 3/6. (PMID:7710395)
- Pattern dystrophy of the retina (HP:0007963): A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation). Evidence: PCS. Frequency: 6/6. (PMID:7710395)
- Macular dystrophy (HP:0007754): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: IEA. (OMIM:169150)
- Yellow/white retinal lesion (HP:0030506): An area anywhere within the retina showing pale yellow or white discoloration. Such lesions can be flat or raised and there size can range from very small to big. Evidence: PCS. Frequency: 5/6. (PMID:7710395)
- Absent foveal reflex (HP:0030825): Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. Evidence: PCS. Frequency: 1/6. (PMID:7710395)
- 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:7710395)
These phenotypes are associated with the disease patterned macular dystrophy 1 (OMIM:169150).