Phenotypes associated with the disease enhanced S-cone syndrome 2 (OMIM:621371):
- 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: 5/5. (PMID:21217109;PMID:15591106;PMID:29385733)
- Mild myopia (HP:0025573): A mild form of myopia with up to -3.00 diopters. Evidence: PCS. Frequency: 1/1. (PMID:15591106)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/4. (PMID:21217109;PMID:29385733)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 1/1. (PMID:15591106)
- 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: 3/3. (PMID:29385733)
- Abnormal Ishihara plate test (HP:0030586). Evidence: PCS. Frequency: 0/1. (PMID:15591106)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: PCS. Frequency: 1/1. (PMID:15591106)
- 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: 1/1. (PMID:15591106)
- Nummular pigmentation of the retina (HP:0030505): Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. Evidence: PCS. Frequency: 1/1. (PMID:21217109)
- Retinitis (HP:0032118): Inflammation of the retina of the eye. Evidence: PCS. Frequency: 2/2. (PMID:21217109;PMID:15591106)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 2/3. (PMID:29385733)
- Patchy atrophy of the retinal pigment epithelium (HP:0007791): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) that occurs in small, isolated areas. Evidence: PCS. Frequency: 1/1. (PMID:21217109)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/4. (PMID:15591106;PMID:29385733)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 1/1. (PMID:15591106)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: PCS. Frequency: 1/1. (PMID:15591106)
- Esodeviation (HP:0020045): A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. Evidence: PCS. Frequency: 2/3. (PMID:29385733)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/4. (PMID:21217109;PMID:29385733)
- 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:21217109)
- Cystoid macular degeneration (HP:0008028): A form of macular degeneration characterized by the presence of multiple cystoid spaces in the macula. Evidence: PCS. Frequency: 1/1. (PMID:21217109)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 2/2. (PMID:21217109;PMID:15591106)
- Exodeviation (HP:0020049): A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. Evidence: PCS. Frequency: 1/3. (PMID:29385733)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: PCS. Frequency: 1/1. (PMID:15591106)