Phenotypes associated with the disease vitelliform macular dystrophy 4 (OMIM:616151):
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 8/8. (PMID:23993198)
- Decreased Arden ratio of electrooculogram (HP:0008179): An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. Evidence: PCS. Frequency: 7/8. (PMID:23993198)
- 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: PCS. (PMID:23993198)
- 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. (PMID:23993198)
- Vitelliform macular lesion (HP:0007677): Egg yolk-like (vitelliform) maculopathy is a lesion caused by the accumulation of material, often lipofuscin, in the subretinal space underlying the macula. Lesions may be singular or multiple, and may be either sharply or poorly demarcated. Evidence: PCS. Frequency: 8/8. (PMID:23993198)
- 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:23993198)
- Moderately reduced visual acuity (HP:0030515): Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1. Evidence: PCS. Frequency: 5/8. (PMID:23993198)