- Retinoschisis (HP:0030502): Splitting of the neuroretinal layers of the retina. Evidence: PCS. (PMID:1867553)
- Vitreous hemorrhage (HP:0007902): Bleeding within the vitreous compartment of the eye. Evidence: PCS. Frequency: 26/86. (PMID:15937075)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 26/86. (PMID:15937075)
- 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. (PMID:11384589)
- Mizuo phenomenon (HP:0030824): Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. Evidence: PCS. Frequency: 4/4. (PMID:1867553)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: PCS. (PMID:15937075)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: TAS. (OMIM:312700)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: TAS. (OMIM:312700)
- ERG: Reduced dark-adapted b-wave amplitude (HP:0007984): A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave. Evidence: PCS. (PMID:10922205)
- Macular atrophy (HP:0007401): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:7662639)
- 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: Frequent (HP:0040282). (PMID:7662639)
- Peripheral cystoid retinal degeneration (HP:0007667): Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. Evidence: TAS. (OMIM:312700)
- Retinal atrophy (HP:0001105): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: TAS. (OMIM:312700)
These phenotypes are associated with the disease X-linked retinoschisis (OMIM:312700).