Phenotypes associated with the disease isolated microphthalmia 5 (OMIM:611040):
- Spicular pigmentation of the retina (HP:0007737): Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). Evidence: PCS. Frequency: 4/4. (PMID:17167404)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 4/4. (PMID:17167404)
- Optic disc drusen (HP:0012426): Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. Evidence: PCS. Frequency: 4/4. (PMID:17167404)
- Cystoid macular edema (HP:0011505): 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: PCS. Frequency: 0/4. (PMID:17167404)
- Scleral thickening (HP:0030823): Increased dimension of the sclera in the anterior-posterior axis. Evidence: PCS. Frequency: 4/4. (PMID:17167404)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 0/4. (PMID:17167404)
- Foveoschisis (HP:0012152): Splitting of the retinal layers in the macula and involving the fovea. Evidence: PCS. Frequency: 4/4. (PMID:17167404)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/4. (PMID:17167404)
- Abnormal light- and dark-adapted electroretinogram (HP:0008323): An abnormality of the combined rod-and-cone response on electroretinogram. Evidence: PCS. Frequency: 4/4. (PMID:17167404)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:611040)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: PCS. Frequency: 4/4. (PMID:17167404)
- 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:17167404)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 4/4. (PMID:17167404)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 8/8. (PMID:17167404)
- Optic disc pallor (HP:0000543): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: PCS. Frequency: 4/4. (PMID:17167404)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: PCS. Frequency: 1/1. (PMID:17167404)