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Enhanced s-cone syndrome(ESCS)

MedGen UID:
341446
Concept ID:
C1849394
Disease or Syndrome
Synonyms: ESCS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): NR2E3 (15q23)
OMIM®: 268100

Clinical features

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.
Nyctalopia
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed)
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Retinoschisis
MedGen UID:
56292
Concept ID:
C0152439
Disease or Syndrome
A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.
Macular edema
MedGen UID:
75732
Concept ID:
C0271051
Disease or Syndrome
Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)
Vitreoretinal degeneration
MedGen UID:
87480
Concept ID:
C0344290
Disease or Syndrome
Gradual deterioration of the vitreous humor and retina.
Pigmentary retinal degeneration
MedGen UID:
331638
Concept ID:
C1833999
Finding
Undetectable electroretinogram
MedGen UID:
383742
Concept ID:
C1855685
Finding
Lack of any response to stimulation upon electroretinography.

Recent clinical studies

Etiology

Hayashi T, Gekka T, Tsuneoka H
Ophthalmic Surg Lasers Imaging Retina 2016 Feb;47(2):187-90. doi: 10.3928/23258160-20160126-15. PMID: 26878455
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
Kiszkielis M, Lubiński W, Penkala K
Doc Ophthalmol 2013 Jun;126(3):241-6. Epub 2013 Jan 6 doi: 10.1007/s10633-012-9371-9. PMID: 23292616Free PMC Article
Udar N, Small K, Chalukya M, Silva-Garcia R, Marmor M
Mol Vis 2011 Feb 17;17:519-25. PMID: 21364904Free PMC Article
Sohn EH, Chen FK, Rubin GS, Moore AT, Webster AR, MacLaren RE
Ophthalmology 2010 Jun;117(6):1199-1206.e1. Epub 2010 Feb 19 doi: 10.1016/j.ophtha.2009.10.046. PMID: 20171741

Diagnosis

Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y
Jpn J Ophthalmol 2016 Nov;60(6):476-485. Epub 2016 Aug 13 doi: 10.1007/s10384-016-0470-0. PMID: 27522502
Hayashi T, Gekka T, Tsuneoka H
Ophthalmic Surg Lasers Imaging Retina 2016 Feb;47(2):187-90. doi: 10.3928/23258160-20160126-15. PMID: 26878455
Sustar M, Perovšek D, Cima I, Stirn-Kranjc B, Hawlina M, Brecelj J
Doc Ophthalmol 2015 Jun;130(3):165-77. Epub 2015 Feb 7 doi: 10.1007/s10633-015-9487-9. PMID: 25663266
Ripamonti C, Aboshiha J, Henning GB, Sergouniotis PI, Michaelides M, Moore AT, Webster AR, Stockman A
Invest Ophthalmol Vis Sci 2014 Feb 18;55(2):963-76. doi: 10.1167/iovs.13-12897. PMID: 24425859
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

Therapy

Bušić M, Bjeloš M, Bosnar D, Ramić S, Bušić I
Doc Ophthalmol 2016 Feb;132(1):67-73. Epub 2016 Jan 23 doi: 10.1007/s10633-016-9527-0. PMID: 26803827
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
Kiszkielis M, Lubiński W, Penkala K
Doc Ophthalmol 2013 Jun;126(3):241-6. Epub 2013 Jan 6 doi: 10.1007/s10633-012-9371-9. PMID: 23292616Free PMC Article
Genead MA, Fishman GA, McAnany JJ
Doc Ophthalmol 2010 Dec;121(3):231-40. Epub 2010 Sep 15 doi: 10.1007/s10633-010-9247-9. PMID: 20842519Free PMC Article
Iannaccone A, Fung KH, Eyestone ME, Stone EM
Am J Ophthalmol 2009 Feb;147(2):307-312.e2. Epub 2008 Oct 4 doi: 10.1016/j.ajo.2008.08.003. PMID: 18835469Free PMC Article

Prognosis

Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y
Jpn J Ophthalmol 2016 Nov;60(6):476-485. Epub 2016 Aug 13 doi: 10.1007/s10384-016-0470-0. PMID: 27522502
Hayashi T, Gekka T, Tsuneoka H
Ophthalmic Surg Lasers Imaging Retina 2016 Feb;47(2):187-90. doi: 10.3928/23258160-20160126-15. PMID: 26878455
Kiszkielis M, Lubiński W, Penkala K
Doc Ophthalmol 2013 Jun;126(3):241-6. Epub 2013 Jan 6 doi: 10.1007/s10633-012-9371-9. PMID: 23292616Free PMC Article
Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A
Hum Mutat 2004 Nov;24(5):439. doi: 10.1002/humu.9285. PMID: 15459973
Nakamura M, Hotta Y, Piao CH, Kondo M, Terasaki H, Miyake Y
Am J Ophthalmol 2002 Apr;133(4):575-7. PMID: 11931802

Clinical prediction guides

Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y
Jpn J Ophthalmol 2016 Nov;60(6):476-485. Epub 2016 Aug 13 doi: 10.1007/s10384-016-0470-0. PMID: 27522502
Ripamonti C, Aboshiha J, Henning GB, Sergouniotis PI, Michaelides M, Moore AT, Webster AR, Stockman A
Invest Ophthalmol Vis Sci 2014 Feb 18;55(2):963-76. doi: 10.1167/iovs.13-12897. PMID: 24425859
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
Usui T, Ichibe M, Tanimoto N, Ueki S, Takagi M, Hasegawa S, Abe H, Miyagawa Y, Nakazawa M
Retina 2004 Dec;24(6):946-52. PMID: 15579994
Nakamura M, Hotta Y, Piao CH, Kondo M, Terasaki H, Miyake Y
Am J Ophthalmol 2002 Apr;133(4):575-7. PMID: 11931802

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