Phenotypes associated with the disease exudative vitreoretinopathy 6 (OMIM:616468):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- 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: 1/6. (PMID:23716654)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 2/6. (PMID:23716654)
- Tractional retinal detachment (HP:0007917): A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes, in the absence of a full-thickness retinal defect. Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- 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: 1/6. (PMID:23716654)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- Nuclear cataract (HP:0100018): A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: PCS. (PMID:23716654)
- Retinal hole (HP:0011530): A full-thickness defect in the retina. Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- Patchy atrophy of the retinal pigment epithelium (HP:0007791): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) that occurs in small, isolated areas. Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- Cortical cataract (HP:0100019): A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- Esodeviation (HP:0020045): A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. Evidence: PCS. Frequency: 2/6. (PMID:23716654)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- Exudative vitreoretinopathy (HP:0030490). Evidence: PCS. Frequency: 6/6. (PMID:23716654)
- Posterior vitreous detachment (HP:0001489): Separation of the vitreous humor from the retina. Evidence: PCS. Frequency: 1/6. (PMID:23716654)
- 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: 1/6. (PMID:23716654)
- 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:23716654)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: PCS. Frequency: 2/6. (PMID:23716654)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 2/6. (PMID:23716654)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: PCS. Frequency: 2/6. (PMID:23716654)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/6. (PMID:23716654)