Phenotypes associated with the disease snowflake vitreoretinal degeneration (OMIM:193230):
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 3/14. (PMID:14644728)
- 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: 5/6. (PMID:14644728)
- Optically empty vitreous (HP:0030663): Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernible gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:193230)
- Snowflake vitreoretinal degeneration (HP:0011533): The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. Evidence: PCS. Frequency: 4/6. (PMID:14644728)
- Retinal dots (HP:0032027): Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. Evidence: TAS. (OMIM:193230)
- Corneal guttata (HP:0012038): Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. Evidence: PCS. Frequency: 4/5. (PMID:14644728)
- 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:18179896)