Phenotypes associated with the disease myopia, high, with cataract and vitreoretinal degeneration (OMIM:614292):
- Lens subluxation (HP:0001132): Partial dislocation of the lens of the eye. Evidence: PCS. Frequency: 3/13. (PMID:21885030)
- 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: 5/13. (PMID:21885030)
- Peripheral vitreoretinal degeneration (HP:0200071): A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina. Evidence: PCS. Frequency: 9/13. (PMID:21885030)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 4/13. (PMID:21885030)
- 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: 11/13. (PMID:21885030)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 13/13. (PMID:21885030)
- Lattice retinal degeneration (HP:0007992): A pattern of white lines and dots in the far periphery of the retina. Evidence: PCS. Frequency: 3/13. (PMID:21885030)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:21885030)
- Mildly reduced visual acuity (HP:0032037): Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3. Evidence: PCS. Frequency: 13/13. Onset: Childhood onset (HP:0011463). (PMID:21885030)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 9/11. Onset: Childhood onset (HP:0011463). (PMID:21885030)