- 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: PCS. Frequency: 6/6. (PMID:29193763;PMID:17306875;PMID:31666973)
- Keratoconus (HP:0000563): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: PCS. Frequency: 1/15. (PMID:24066033;PMID:26047050;PMID:31666973)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 4/5. (PMID:18682808;PMID:30576320)
- Slow pupillary light response (HP:0030211): Reduced velocity and acceleration in the pupillary light response. Evidence: PCS. Frequency: 3/3. (PMID:33308271)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 42/53. (PMID:29053603;PMID:30072743;PMID:23505306;PMID:25096270;PMID:21602930;PMID:33308271;PMID:27422788;PMID:26047050;PMID:23661368;PMID:30576320;PMID:31666973)
- 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: 1/9. (PMID:28453600;PMID:30576320;PMID:31666973)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 64/66. (PMID:23505306;PMID:30072743;PMID:25096270;PMID:24997176;PMID:33308271;PMID:27422788;PMID:32736544;PMID:28966547;PMID:30576320;PMID:24066033;PMID:29053603;PMID:28456785;PMID:21602930;PMID:26047050;PMID:31666973)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 10/21. (PMID:26992781;PMID:30072743;PMID:29193763;PMID:17306875;PMID:26047050)
- Very low visual acuity (HP:0032122): A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). Evidence: PCS. Frequency: 35/39. (PMID:28456785;PMID:24997176;PMID:33308271;PMID:27422788;PMID:26047050;PMID:34722527;PMID:23661368;PMID:30576320)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: TAS. (OMIM:613826)
- 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:24066033)
- 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: 6/28. (PMID:29193763;PMID:30072743;PMID:27422788;PMID:18682808;PMID:26047050;PMID:31666973)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 33/38. (PMID:23505306;PMID:17306875;PMID:21602930;PMID:27422788;OMIM:613826;PMID:23661368;PMID:28966547;PMID:31666973)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: PCS. Frequency: 34/34. (PMID:29053603;PMID:26992781;PMID:23505306;PMID:28456785;PMID:21602930;PMID:33308271;PMID:27422788;PMID:34722527;PMID:28453600;PMID:32736544;PMID:28966547;PMID:31666973)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/1. (PMID:28456785)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/4. (PMID:33308271;PMID:34722527)
- Foveal atrophy (HP:0025010): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the fovea. Evidence: PCS. Frequency: 1/1. (PMID:29193763)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 6/30. (PMID:23505306;PMID:28456785;PMID:24997176;PMID:33308271;PMID:32736544;PMID:28453600)
- Severely reduced visual acuity (HP:0001141): Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. Evidence: PCS. Frequency: 1/1. (PMID:29053603)
- Absent foveal reflex (HP:0030825): Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. Evidence: PCS. Frequency: 4/8. (PMID:26992781;PMID:21602930)
- Peripheral retinal atrophy (HP:0200070): A nonspecific term denoting wasting, especially as a result of degeneration, of the peripheral retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: PCS. Frequency: 1/9. (PMID:30072743;PMID:18682808)
- Focal retinal arteriolar constriction (HP:0008043): Focal decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. Evidence: PCS. Frequency: 1/1. (PMID:28456785)
- 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: TAS. (OMIM:613826)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 2/10. (PMID:30072743;PMID:18682808;PMID:28966547)
- Abnormal vitreous humor morphology (HP:0004327): Any structural anomaly of the vitreous body. Evidence: PCS. Frequency: 2/10. (PMID:26047050)
- 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: 7/22. (PMID:23505306;PMID:17306875;PMID:26047050;PMID:32736544;PMID:28453600)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 20/21. (PMID:28456785;PMID:24997176;PMID:32736544;PMID:28453600;PMID:30576320)
- 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: PCS. Frequency: 33/46. (PMID:24066033;PMID:29053603;PMID:29193763;PMID:23505306;PMID:24997176;PMID:33308271;PMID:27422788;PMID:26047050;PMID:28453600;PMID:32736544;PMID:30576320)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 6/7. (PMID:29193763;PMID:17306875;PMID:25096270;PMID:31666973)
- 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: 36/39. (PMID:24066033;PMID:23505306;PMID:24997176;PMID:33308271;PMID:27422788;PMID:26047050;PMID:28966547)
- Visual acuity no light perception (HP:0030553). Evidence: PCS. Frequency: 1/1. (PMID:21602930)
- Asteroid hyalosis (HP:0030672): The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. Evidence: PCS. Frequency: 1/9. (PMID:30072743;PMID:18682808)
- Moderately reduced visual acuity (HP:0030515): Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1. Evidence: PCS. Frequency: 2/2. (PMID:29193763;PMID:17306875)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 8/23. (PMID:26992781;PMID:23505306;PMID:21602930;PMID:33308271;PMID:18682808;PMID:32736544)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 38/38. (PMID:26992781;PMID:23505306;PMID:30072743;PMID:25096270;PMID:21602930;PMID:18682808;PMID:26047050;PMID:28453600;PMID:32736544;PMID:30576320;PMID:31666973)
- Posterior subcapsular cataract (HP:0007787): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: PCS. Frequency: 2/10. (PMID:29193763;PMID:30072743;PMID:18682808)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: PCS. Frequency: 4/5. (PMID:18682808;PMID:31666973)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 1/10. (PMID:26047050)
- Undetectable electroretinogram (HP:0000550): Lack of any response to stimulation upon electroretinography. Evidence: TAS. (OMIM:613826)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/5. (PMID:28966547;PMID:31666973)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. Frequency: 2/8. (PMID:30072743)
- Eye poking (HP:0001483): Repetitive pressing, poking, and/or rubbing in the eyes. Evidence: PCS. Frequency: 35/57. (PMID:24066033;PMID:23505306;PMID:24997176;PMID:21602930;PMID:33308271;PMID:27422788;PMID:26047050;PMID:32736544;PMID:23661368;PMID:28966547;PMID:31666973)
- Bull's eye maculopathy (HP:0011504): Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board. Evidence: PCS. Frequency: 1/9. (PMID:30072743;PMID:18682808)
- Retinal thinning on OCT (HP:0030329): Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). Evidence: PCS. Frequency: 3/4. (PMID:25096270;PMID:33308271)
- Retinal flecks (HP:0012045): Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. Evidence: PCS. Frequency: 1/1. (PMID:29193763)
- Pendular nystagmus (HP:0012043): Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. Evidence: TAS. (OMIM:613826)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: PCS. Frequency: 19/20. (PMID:26992781;PMID:21602930;PMID:27422788;PMID:26047050;PMID:23661368)
- 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: 5/11. (PMID:24066033;PMID:33308271;PMID:18682808;PMID:27422788;PMID:28453600;PMID:28966547)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 2/3. (PMID:24066033;PMID:29193763;PMID:28966547)
These phenotypes are associated with the disease Leber congenital amaurosis 6 (OMIM:613826).