- Constriction of peripheral visual field (HP:0001133): An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Evidence: IEA. (OMIM:210370)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: PCS. (PMID:15937078)
- Marginal corneal dystrophy (HP:0007880). Evidence: IEA. (OMIM:210370)
- 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: PCS. (PMID:15937078)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: IEA. (OMIM:210370)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 9/11. (PMID:15937078)
- Progressive night blindness (HP:0007675). Evidence: IEA. (OMIM:210370)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:210370)
- Paracentral scotoma (HP:0030528). Evidence: IEA. (OMIM:210370)
- Corneal crystals (HP:0000531). Evidence: PCS. Frequency: 8/11. (PMID:15937078)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. (OMIM:210370)
These phenotypes are associated with the disease Bietti crystalline corneoretinal dystrophy (OMIM:210370).