Phenotypes associated with the disease visual impairment and progressive phthisis bulbi (OMIM:618283):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:29771303)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 1/1. (PMID:29771303)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 1/1. (PMID:29771303)
- 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:29771303)
- Phthisis bulbi (HP:0000667): Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. Evidence: PCS. Frequency: 3/3. Onset: Young adult onset (HP:0011462). (PMID:29771303)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 3/3. Onset: Congenital onset (HP:0003577). (PMID:29771303)
- Flat cornea (HP:0007720): Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. Evidence: PCS. Frequency: 1/1. (PMID:29771303)