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Enhanced S-cone syndrome(ESCS)

MedGen UID:
341446
•Concept ID:
C1849394
•
Disease or Syndrome
Synonym: ESCS
 
Gene (location): NR2E3 (15q23)
 
Monarch Initiative: MONDO:0100288
OMIM®: 268100

Definition

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. Characteristics include 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. [from MONDO]

Clinical features

From HPO
Edema
MedGen UID:
4451
•Concept ID:
C0013604
•
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
See: Feature record | Search on this feature
Hemeralopia
MedGen UID:
42391
•Concept ID:
C0018975
•
Disease or Syndrome
A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.
See: Feature record | Search on this feature
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
See: Feature record | Search on this feature
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
See: Feature record | Search on this feature
Retinoschisis
MedGen UID:
56292
•Concept ID:
C0152439
•
Disease or Syndrome
Splitting of the neuroretinal layers of the retina.
See: Feature record | Search on this feature
Macular edema
MedGen UID:
75732
•Concept ID:
C0271051
•
Disease or Syndrome
Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.
See: Feature record | Search on this feature
Vitreoretinopathy
MedGen UID:
87480
•Concept ID:
C0344290
•
Disease or Syndrome
Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.
See: Feature record | Search on this feature
Undetectable electroretinogram
MedGen UID:
383742
•Concept ID:
C1855685
•
Finding
Lack of any response to stimulation upon electroretinography.
See: Feature record | Search on this feature
Pigmentary retinopathy
MedGen UID:
1643295
•Concept ID:
C4551715
•
Disease or Syndrome
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials.
Roman AJ, Powers CA, Semenov EP, Sheplock R, Aksianiuk V, Russell RC, Sumaroka A, Garafalo AV, Cideciyan AV, Jacobson SG
Int J Mol Sci 2019 May 21;20(10) doi: 10.3390/ijms20102497. PMID: 31117170Free PMC Article
Treatment of cystic macular lesions in hereditary retinal dystrophies.
Salvatore S, Fishman GA, Genead MA
Surv Ophthalmol 2013 Nov-Dec;58(6):560-84. doi: 10.1016/j.survophthal.2012.11.006. PMID: 24160730
Utility in clinical practice of standard vs. high-intensity ERG a-waves.
Marcus M, Cabael L, Marmor MF
Doc Ophthalmol 2006 Nov;113(3):145-53. doi: 10.1007/s10633-005-5888-5. PMID: 17103246

Recent clinical studies

Etiology

Recognizable Patterns of Submacular Fibrosis in Enhanced S-Cone Syndrome.
Alsalamah AK, Khan AO, Bakar AA, Schatz P, Nowilaty SR
Ophthalmol Retina 2021 Sep;5(9):918-927. Epub 2021 Apr 2 doi: 10.1016/j.oret.2021.03.014. PMID: 33819700
Incidence and Natural History of Retinochoroidal Neovascularization in Enhanced S-Cone Syndrome.
Nowilaty SR, Alsalamah AK, Magliyah MS, Alabdullah AA, Ahmad K, Semidey VA, Mura M, Schatz P
Am J Ophthalmol 2021 Feb;222:174-184. Epub 2020 Sep 15 doi: 10.1016/j.ajo.2020.09.010. PMID: 32941856
Evolution of macular hole in enhanced S-cone syndrome.
Magliyah MS, AlSulaiman SM, Schatz P, Nowilaty SR
Doc Ophthalmol 2021 Apr;142(2):239-245. Epub 2020 Aug 19 doi: 10.1007/s10633-020-09787-8. PMID: 32815098
Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.
de Carvalho ER, Robson AG, Arno G, Boon CJF, Webster AA, Michaelides M
Ophthalmol Retina 2021 Feb;5(2):195-214. Epub 2020 Jul 15 doi: 10.1016/j.oret.2020.07.008. PMID: 32679203Free PMC Article
Enhanced S-cone syndrome: Clinical spectrum in Indian population.
Naik A, Ratra D, Banerjee A, Dalan D, Jandyal S, Rao G, Sen P, Bhende M, Jayaprakash V, Susvar P, Walinjkar J, Rao C
Indian J Ophthalmol 2019 Apr;67(4):523-529. doi: 10.4103/ijo.IJO_1480_18. PMID: 30900587Free PMC Article

Diagnosis

Enhanced S-cone Syndrome, a Mini-review.
Wang Y, Wong J, Duncan JL, Roorda A, Tuten WS
Adv Exp Med Biol 2023;1415:189-194. doi: 10.1007/978-3-031-27681-1_28. PMID: 37440033
Non-vasogenic cystoid maculopathies.
Gaudric A, Audo I, Vignal C, Couturier A, Boulanger-Scemama É, Tadayoni R, Cohen SY
Prog Retin Eye Res 2022 Nov;91:101092. Epub 2022 Aug 1 doi: 10.1016/j.preteyeres.2022.101092. PMID: 35927124
Recognizable Patterns of Submacular Fibrosis in Enhanced S-Cone Syndrome.
Alsalamah AK, Khan AO, Bakar AA, Schatz P, Nowilaty SR
Ophthalmol Retina 2021 Sep;5(9):918-927. Epub 2021 Apr 2 doi: 10.1016/j.oret.2021.03.014. PMID: 33819700
Enhanced S-cone syndrome: Clinical spectrum in Indian population.
Naik A, Ratra D, Banerjee A, Dalan D, Jandyal S, Rao G, Sen P, Bhende M, Jayaprakash V, Susvar P, Walinjkar J, Rao C
Indian J Ophthalmol 2019 Apr;67(4):523-529. doi: 10.4103/ijo.IJO_1480_18. PMID: 30900587Free PMC Article
Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome).
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:153-156. doi: 10.1007/978-3-319-95046-4_28. PMID: 30578501

Therapy

Enhanced S-Cone Syndrome Masquerading as TORCH in an Infant and a Toddler.
Navarrete A, Matanis-Suidan M, Hemo I, Mechoulam H, Banin E, Amer R
Ocul Immunol Inflamm 2023 Feb;31(2):455-461. Epub 2022 Feb 3 doi: 10.1080/09273948.2022.2028290. PMID: 35113758
Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials.
Roman AJ, Powers CA, Semenov EP, Sheplock R, Aksianiuk V, Russell RC, Sumaroka A, Garafalo AV, Cideciyan AV, Jacobson SG
Int J Mol Sci 2019 May 21;20(10) doi: 10.3390/ijms20102497. PMID: 31117170Free PMC Article
Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9.
Bohrer LR, Wiley LA, Burnight ER, Cooke JA, Giacalone JC, Anfinson KR, Andorf JL, Mullins RF, Stone EM, Tucker BA
Genes (Basel) 2019 Apr 5;10(4) doi: 10.3390/genes10040278. PMID: 30959774Free PMC Article
Bevacizumab for choroidal neovascularisation in enhanced S-cone syndrome.
Broadhead GK, Grigg JR, McCluskey P, Korsakova M, Chang AA
Doc Ophthalmol 2016 Oct;133(2):139-143. Epub 2016 Jul 16 doi: 10.1007/s10633-016-9555-9. PMID: 27424008
Treatment of cystic macular lesions in hereditary retinal dystrophies.
Salvatore S, Fishman GA, Genead MA
Surv Ophthalmol 2013 Nov-Dec;58(6):560-84. doi: 10.1016/j.survophthal.2012.11.006. PMID: 24160730

Prognosis

Incidence and Natural History of Retinochoroidal Neovascularization in Enhanced S-Cone Syndrome.
Nowilaty SR, Alsalamah AK, Magliyah MS, Alabdullah AA, Ahmad K, Semidey VA, Mura M, Schatz P
Am J Ophthalmol 2021 Feb;222:174-184. Epub 2020 Sep 15 doi: 10.1016/j.ajo.2020.09.010. PMID: 32941856
Evolution of macular hole in enhanced S-cone syndrome.
Magliyah MS, AlSulaiman SM, Schatz P, Nowilaty SR
Doc Ophthalmol 2021 Apr;142(2):239-245. Epub 2020 Aug 19 doi: 10.1007/s10633-020-09787-8. PMID: 32815098
Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.
de Carvalho ER, Robson AG, Arno G, Boon CJF, Webster AA, Michaelides M
Ophthalmol Retina 2021 Feb;5(2):195-214. Epub 2020 Jul 15 doi: 10.1016/j.oret.2020.07.008. PMID: 32679203Free PMC Article
Enhanced S-cone syndrome: Clinical spectrum in Indian population.
Naik A, Ratra D, Banerjee A, Dalan D, Jandyal S, Rao G, Sen P, Bhende M, Jayaprakash V, Susvar P, Walinjkar J, Rao C
Indian J Ophthalmol 2019 Apr;67(4):523-529. doi: 10.4103/ijo.IJO_1480_18. PMID: 30900587Free PMC Article
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.
Garafalo AV, Calzetti G, Cideciyan AV, Roman AJ, Saxena S, Sumaroka A, Choi W, Wright AF, Jacobson SG
Invest Ophthalmol Vis Sci 2018 Jul 2;59(8):3209-3219. doi: 10.1167/iovs.18-24518. PMID: 29971438

Clinical prediction guides

Enhanced S-Cone Syndrome: Elevated Cone Counts Confer Supernormal Visual Acuity in the S-Cone Pathway.
Wang Y, Wong J, Duncan JL, Roorda A, Tuten WS
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):17. doi: 10.1167/iovs.64.10.17. PMID: 37459066Free PMC Article
Incidence and Natural History of Retinochoroidal Neovascularization in Enhanced S-Cone Syndrome.
Nowilaty SR, Alsalamah AK, Magliyah MS, Alabdullah AA, Ahmad K, Semidey VA, Mura M, Schatz P
Am J Ophthalmol 2021 Feb;222:174-184. Epub 2020 Sep 15 doi: 10.1016/j.ajo.2020.09.010. PMID: 32941856
MULTIMODAL EVIDENCE OF TYPE 3 NEOVASCULARIZATION IN ENHANCED S-CONE SYNDROME.
Maldonado RS, Zein WM, Cukras C
Retin Cases Brief Rep 2021 Nov 1;15(6):702-708. doi: 10.1097/ICB.0000000000000892. PMID: 31356371Free PMC Article
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.
Garafalo AV, Calzetti G, Cideciyan AV, Roman AJ, Saxena S, Sumaroka A, Choi W, Wright AF, Jacobson SG
Invest Ophthalmol Vis Sci 2018 Jul 2;59(8):3209-3219. doi: 10.1167/iovs.18-24518. PMID: 29971438
Expanded clinical spectrum of enhanced S-cone syndrome.
Yzer S, Barbazetto I, Allikmets R, van Schooneveld MJ, Bergen A, Tsang SH, Jacobson SG, Yannuzzi LA
JAMA Ophthalmol 2013 Oct;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349. PMID: 23989059Free PMC Article

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