Phenotypes associated with the disease fundus dystrophy, pseudoinflammatory, recessive form (OMIM:264420):
- Peripheral retinal degeneration (HP:0007769): Progressive loss of peripheral retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: IEA. (OMIM:264420)
- Retinal hemorrhage (HP:0000573): Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage. Evidence: IEA. (OMIM:264420)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: TAS. (OMIM:264420)
- 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: IEA. (OMIM:264420)
- Dyschromatopsia (HP:0007641): A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. Evidence: IEA. (OMIM:264420)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: IEA. (OMIM:264420)
- Central retinal exudate (HP:0007822). Evidence: IEA. (OMIM:264420)