Phenotypes associated with the disease exudative vitreoretinopathy 1 (OMIM:133780):
- Vitreous hemorrhage (HP:0007902): Bleeding within the vitreous compartment of the eye. Evidence: PCS. (PMID:14507768)
- 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: 0/2. (PMID:15488808)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 6/16. (PMID:14507768;PMID:12172548)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/2. (PMID:15488808)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/2. (PMID:15488808)
- Falciform retinal fold (HP:0001493): An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. Evidence: PCS. Frequency: 4/12. (PMID:14507768)
- Vitreous floaters (HP:0100832): Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. Evidence: PCS. Frequency: 8/12. (PMID:14507768)
- Retinal hole (HP:0011530): A full-thickness defect in the retina. Evidence: PCS. Frequency: 4/14. (PMID:14507768;PMID:15488808)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: IEA. (OMIM:133780)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 12/14. (PMID:14507768;PMID:15488808)
- Avascular peripheral retina (HP:0007685): Incomplete peripheral vascular development. Evidence: PCS. Frequency: 14/14. (PMID:14507768;PMID:15488808)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. (OMIM:133780)
- Ectopic fovea (HP:0025007): An abnormal anatomic position of the fovea. Evidence: PCS. Frequency: 4/12. (PMID:14507768)
- Posterior vitreous detachment (HP:0001489): Separation of the vitreous humor from the retina. Evidence: IEA. (OMIM:133780)
- Exudative vitreoretinopathy (HP:0030490). Evidence: PCS. Frequency: 1/2. (PMID:15488808)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: PCS. Frequency: 1/2. (PMID:15488808)
- Retinal exudate (HP:0001147): Yellow-white intraretinal deposits in the retina typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. Evidence: PCS. Frequency: 3/12. (PMID:14507768)
- Subcapsular cataract (HP:0000523): A cataract that affects the region of the lens directly beneath the capsule of the lens. Evidence: PCS. (PMID:14507768)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:14507768)
- 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:12172548)