Phenotypes associated with the disease macular dystrophy, retinal, 3 (OMIM:608850):
- Retinal neovascularization (HP:0030666): In ischemic retinal disease, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels. Ischemia invariably leads to the upregulation of Vascular Endothelial Growth Factor (VEGF) production. Most frequently the new vessels grow internal to the plane of the retina. However, intraretinal proliferation of new vessels can also occur. Evidence: PCS. Frequency: 3/10. (PMID:12714659)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:21179233)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. Frequency: 4/8. (PMID:12714659)
- Macular drusen (HP:0030499): Drusen localted in the macula. Evidence: PCS. Frequency: 7/10. (PMID:12714659)
- Hyperautofluorescent macular lesion (HP:0030631): Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. Evidence: PCS. Frequency: 2/3. (PMID:12714659)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/8. (PMID:12714659)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: PCS. Frequency: 2/7. (PMID:12714659)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: PCS. Frequency: 6/10. (PMID:12714659)
- 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:12714659)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: PCS. Frequency: 0/8. (PMID:12714659)