Phenotypes associated with the disease corneal dystrophy, Fuchs endothelial, 6 (OMIM:613270):
- Abnormal Descemet membrane morphology (HP:0011490): Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. Evidence: PCS. (PMID:24094747)
- Corneal stromal edema (HP:0012040): Abnormal accumulation of fluid and swelling of the stroma of cornea. Evidence: PCS. (PMID:24094747)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: PCS. (PMID:24094747)
- Corneal dystrophy (HP:0001131): The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. Evidence: IEA. (OMIM:613270)
- Reduced visual acuity (HP:0007663). Evidence: PCS. (PMID:24094747)
- 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. (PMID:24094747)