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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.
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.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
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.
Retinoschisis
MedGen UID:
56292
Concept ID:
C0152439
Disease or Syndrome
Splitting of the neuroretinal layers of the retina.
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.
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.
Undetectable electroretinogram
MedGen UID:
383742
Concept ID:
C1855685
Finding
Lack of any response to stimulation upon electroretinography.
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.

Professional guidelines

PubMed

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
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
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

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
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
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free PMC Article
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
Lipscomb PM, Reddy AK
JAMA Ophthalmol 2016 Apr;134(4):459-60. doi: 10.1001/jamaophthalmol.2015.3646. PMID: 26913929

Diagnosis

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
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
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
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:153-156. doi: 10.1007/978-3-319-95046-4_28. PMID: 30578501
Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT
JAMA Ophthalmol 2014 Nov;132(11):1341-9. doi: 10.1001/jamaophthalmol.2014.2343. PMID: 25079116

Therapy

Antonio-Aguirre B, Ling C, Singh MS
Ophthalmic Genet 2023 Oct;44(5):430-436. Epub 2023 May 29 doi: 10.1080/13816810.2023.2212757. PMID: 37246744
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
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
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
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

Shan J, Chang LY, Li DJ, Wang XQ
Am J Reprod Immunol 2023 Sep;90(3):e13762. doi: 10.1111/aji.13762. PMID: 37641372
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
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free PMC Article
Lipscomb PM, Reddy AK
JAMA Ophthalmol 2016 Apr;134(4):459-60. doi: 10.1001/jamaophthalmol.2015.3646. PMID: 26913929
Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. PMID: 18309337

Clinical prediction guides

Shan J, Chang LY, Li DJ, Wang XQ
Am J Reprod Immunol 2023 Sep;90(3):e13762. doi: 10.1111/aji.13762. PMID: 37641372
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
Antonio-Aguirre B, Ling C, Singh MS
Ophthalmic Genet 2023 Oct;44(5):430-436. Epub 2023 May 29 doi: 10.1080/13816810.2023.2212757. PMID: 37246744
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
Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A
Invest Ophthalmol Vis Sci 2020 Aug 3;61(10):36. doi: 10.1167/iovs.61.10.36. PMID: 32881472Free PMC Article

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