Phenotypes associated with the disease autosomal dominant vitreoretinochoroidopathy (OMIM:193220, an entry in Online Mendelian Inheritance in Man):
- Retinal neovascularization (HP:0030666, a Human Phenotype Ontology term): 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: IEA. (OMIM:193220)
- Vitreous hemorrhage (HP:0007902, a Human Phenotype Ontology term): Bleeding within the vitreous compartment of the eye. Evidence: IEA. (OMIM:193220)
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: PCS. (OMIM:193220)
- Retinal detachment (HP:0000541, a Human Phenotype Ontology term): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: IEA. (OMIM:193220)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: IEA. (OMIM:193220)
- Color vision defect (HP:0000551, a Human Phenotype Ontology term): An anomaly in the ability to discriminate between or recognize colors. Evidence: IEA. (OMIM:193220)
- Microcornea (HP:0000482, a Human Phenotype Ontology term): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: PCS. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:15452077)
- Pigmentary retinopathy (HP:0000580, a Human Phenotype Ontology term): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: IEA. (OMIM:193220)
- Posterior staphyloma (HP:0030856, a Human Phenotype Ontology term): A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. Evidence: PCS. (PMID:15452077)
- Nystagmus (HP:0000639, a Human Phenotype Ontology term): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: IEA. (OMIM:193220)
- Focal retinal arteriolar constriction (HP:0008043, a Human Phenotype Ontology term): Focal decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. Evidence: PCS. (OMIM:193220)
- Pulverulent cataract (HP:0010693, a Human Phenotype Ontology term): A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. Evidence: PCS. (OMIM:193220)
- Abnormality of chorioretinal pigmentation (HP:0007661, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:193220)
- Blindness (HP:0000618, a Human Phenotype Ontology term): 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:193220)
- Developmental cataract (HP:0000519, a Human Phenotype Ontology term): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: PCS. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:15452077)
- Dyschromatopsia (HP:0007641, a Human Phenotype Ontology term): A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. Evidence: PCS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:193220)
- Microphthalmia (HP:0000568, a Human Phenotype Ontology term): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:15452077)
- Retinal arteriolar occlusion (HP:0007985, a Human Phenotype Ontology term): Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. This can affect the inner or mid-retinal structures. Evidence: IEA. (OMIM:193220)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:15452077)
- Glaucoma (HP:0000501, a Human Phenotype Ontology term): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:193220)