Phenotypes associated with the disease occult macular dystrophy (OMIM:613587):
- Slow decrease in visual acuity (HP:0007924). Evidence: PCS. (PMID:20826268)
- Abnormal multifocal electroretinogram (HP:0030468). Evidence: PCS. (PMID:20826268)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 5/16. (PMID:20826268)
- 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: 3/16. (PMID:20826268)
- Abnormal full-field electroretinogram (HP:0030466): An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG. Evidence: PCS. Frequency: 0/16. (PMID:20826268)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 8/16. (PMID:20826268)
- 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: Very frequent (HP:0040281). (PMID:20826268)
- Abnormal fundus fluorescein angiography (HP:0030604): An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation. Evidence: PCS. Frequency: 0/16. (PMID:20826268)
- 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:20826268)
- Typified by age-related disease onset (HP:0003831): Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject. Evidence: PCS. (PMID:20826268)