Phenotypes associated with the disease exfoliation syndrome, susceptibility to (OMIM:177650, an entry in Online Mendelian Inheritance in Man):
- Lens subluxation (HP:0001132, a Human Phenotype Ontology term): Partial dislocation of the lens of the eye. Evidence: TAS. (OMIM:177650)
- Anisocoria (HP:0009916, a Human Phenotype Ontology term): Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. Evidence: TAS. (OMIM:177650)
- Phakodonesis (HP:0012629, a Human Phenotype Ontology term): Tremulousness (trembling) of the lens of the eye. Evidence: TAS. (OMIM:177650)
- Rigidity (HP:0002063, a Human Phenotype Ontology term): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: IEA. (OMIM:177650)
- Iris hypoperfusion (HP:0012635, a Human Phenotype Ontology term): Reduction in the amount of blood flow to the iris. Evidence: IEA. (OMIM:177650)
- Retinal venous occlusion (HP:0012636, a Human Phenotype Ontology term): Blockage of a retinal vein or venule, occurring typically at an arteriovenous crossing. Typically presenting with dilated veins, retinal hemorrhages and in some cases non-perfusion. Evidence: TAS. (OMIM:177650)
- Mydriasis (HP:0011499, a Human Phenotype Ontology term): Abnormal dilatation of the iris. Evidence: IEA. (OMIM:177650)
- Pseudoexfoliation (HP:0012627, a Human Phenotype Ontology term): Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. Evidence: IEA. (OMIM:177650)
- Pigment deposition in the trabecular meshwork (HP:0012631, a Human Phenotype Ontology term): Accumulation of abnormal amounts of pigment within the trabecular meshwork. Evidence: TAS. (OMIM:177650)
- Asymmetry of intraocular pressure (HP:0012633, a Human Phenotype Ontology term): A difference in the amount of intraocular pressure in the right and left eye. Evidence: TAS. (OMIM:177650)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:177650)
- Abnormal lens morphology (HP:0000517, a Human Phenotype Ontology term): An abnormality of the lens. Evidence: IEA. (OMIM:177650)
- 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: IEA. (OMIM:177650)
- 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:177650)