Phenotypes associated with the disease Severe early-childhood-onset retinal dystrophy (ORPHA:364055):
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Abnormal corneal endothelium morphology (HP:0011488): Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Posterior synechiae of the anterior chamber (HP:0011484): Adhesions between the iris and the lens. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Posterior subcapsular cataract (HP:0007787): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Macular pseudocoloboma (HP:0001116): A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Rhegmatogenous retinal detachment (HP:0012230): A type of retinal detachment associated with a full-thickness defect in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:364055)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Undetectable electroretinogram (HP:0000550): Lack of any response to stimulation upon electroretinography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Abnormal pupillary light reflex (HP:0007695): An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Delayed early-childhood social milestone development (HP:0012434): A failure to meet one or more age-related milestones of social behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Postural instability (HP:0002172): A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Peripheral visual field loss (HP:0007994): Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- 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). (ORPHA:364055)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Abnormal macular morphology (HP:0001103): A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Retinal pigment epithelial mottling (HP:0007814): Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364055)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)
- Granular macular appearance (HP:0007793): Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364055)