Phenotypes associated with the disease cystoid macular edema (OMIM:153880, an entry in Online Mendelian Inheritance in Man):
- 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:153880)
- Pericentral retinitis pigmentosa (HP:0007947, a Human Phenotype Ontology term): A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. Evidence: IEA. (OMIM:153880)
- Hypermetropia (HP:0000540, a Human Phenotype Ontology term): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: IEA. (OMIM:153880)
- Edema (HP:0000969, a Human Phenotype Ontology term): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: IEA. (OMIM:153880)
- Cystoid macular edema (HP:0011505, a Human Phenotype Ontology term): Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area. Evidence: TAS. (OMIM:153880)
- Macular dystrophy (HP:0007754, a Human Phenotype Ontology term): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: TAS. (OMIM:153880)
- 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:153880)