Disease Information for Enhanced S-Cone syndrome/ESCS (15q23)

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Clinical Manifestations
Signs & Symptoms
Blue vision distortions
Hemeralopia (inability to See in bright light)
Night blindness/Impaired night vision
Preretinal bands/Veils
Retinal Macula Edema
Sees better in blue light
Diagnostic Test Results
Electrodiagnosis
Electroretinogram abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Cataract
Liquified vitreous body
Pigmentary retinal dystrophy
Retinal Degeneration/Dystrophy
Retinoschisis
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 15q23
Pathophysiology/Gene locus Chromosome 15
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Mutation Nuclear receptor gene NR2E3
Pathophysiology/Blue cones enhanced red cones apoptosis
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/INCIDENCE/Esoteric disease (example)
Synonyms
Synonym
Enhanced S Cone syndrome ESCS (15q23), Synonym/Favre Hyaloidoretinal degeneration, Synonym/Goldman-Favre syndrome variant
Definition

gene locus 15q23; includes Goldman-Favre syndrome; Hereditary autosomal recessive disorder; ENHANCED S-CONE SYNDROME; ESCS Clinical Synopsis;Eyes : Liquefied vitreous body; Preretinal band-shaped structures (veil); Macular edema ;Retinoschisis; Retinal pigmentary degeneration; Hemeralopia; Hyaloideoretinal degeneration; Vitreoretinal degeneration; Cataract; Night blindness; Lab:;Extinguished electroretinogram; Alternative titles; symbols; GOLDMANN-FAVRE SYNDROME, INCLUDED RETINOSCHISIS WITH EARLY HEMERALOPIA, INCLUDED; FAVRE HYALOIDEORETINAL DEGENERATION, INCLUDED; Gene map locus 15q23; mutations in the nuclear receptor gene NR2E3; Hereditary human retinal degenerative diseases usually affect the mature photoreceptor topography by reducing the number of cells through apoptosis, resulting in loss of visual function; Only one inherited retinal disease, the enhanced S-cone syndrome (ESCS), manifests a gain in function of photoreceptors; ESCS is an autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones; People with ESCS also suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration; The pattern of retinal dysfunction is a constant among ESCS patients, but the degree of clinically evident retinal degeneration can vary from minimal to severe; The latter condition is known as Goldmann-Favre syndrome----[OMIM Nov 2004]------

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External Links Related to Enhanced S-Cone syndrome/ESCS (15q23)
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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