Phenotypes associated with the disease exudative vitreoretinopathy 2, X-linked (OMIM:305390):
- Intraretinal exudate (HP:0007989): Retinal exudate within the retinal tissue itself. Evidence: PCS. (OMIM:305390)
- Shallow anterior chamber (HP:0000594): Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. Evidence: PCS. Frequency: 1/4. (PMID:17325173)
- 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: 1/4. (PMID:17325173)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 3/4. (PMID:17325173)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. (OMIM:305390)
- 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. (PMID:20159112)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/4. (PMID:17325173)
- Subretinal exudate (HP:0011532): A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. Evidence: PCS. (PMID:8457509)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 1/4. (PMID:17325173)
- Retinal vascular tortuosity (HP:0012841): An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both. Evidence: PCS. Frequency: 1/4. (PMID:17325173)
- Retinal fold (HP:0008052): A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. Evidence: PCS. Frequency: 1/4. (PMID:17325173)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:305390)
- Retinal hole (HP:0011530): A full-thickness defect in the retina. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:305390)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:20159112)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/4. (PMID:17325173)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:305390)
- Avascular peripheral retina (HP:0007685): Incomplete peripheral vascular development. Evidence: PCS. Frequency: 3/4. (PMID:17325173)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/4. (PMID:17325173)
- Exudative vitreoretinopathy (HP:0030490). Evidence: TAS. (OMIM:305390)
- Peripheral vitreous opacities (HP:0007710). Evidence: PCS. (PMID:1642288)