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Schnyder crystalline corneal dystrophy(SCCD)

MedGen UID:
124391
Concept ID:
C0271287
Disease or Syndrome
Synonyms: Corneal dystrophy crystalline of Schnyder; Crystalline corneal dystrophy; SCCD; Schnyder corneal dystrophy
SNOMED CT: Schnyder's crystalline corneal dystrophy (39662004); Schnyder crystalline cornea dystrophy (419395007); Crystalline corneal dystrophy (39662004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): UBIAD1 (1p36.22)
 
HPO: HP:0007760
Monarch Initiative: MONDO:0007374
OMIM®: 121800
Orphanet: ORPHA98967

Definition

Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013). [from OMIM]

Clinical features

From HPO
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
Schnyder crystalline corneal dystrophy
MedGen UID:
124391
Concept ID:
C0271287
Disease or Syndrome
Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSchnyder crystalline corneal dystrophy
Follow this link to review classifications for Schnyder crystalline corneal dystrophy in Orphanet.

Conditions with this feature

Schnyder crystalline corneal dystrophy
MedGen UID:
124391
Concept ID:
C0271287
Disease or Syndrome
Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013).

Professional guidelines

PubMed

Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Jiang H, Orr A, Guernsey DL, Robitaille J, Asselin G, Samuels ME, Dubé MP
PLoS One 2009;4(4):e5280. Epub 2009 Apr 28 doi: 10.1371/journal.pone.0005280. PMID: 19399176Free PMC Article

Recent clinical studies

Etiology

Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ Jr, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu DW, Ebenezer N, Nickerson ML
Am J Med Genet A 2008 Feb 1;146A(3):271-83. doi: 10.1002/ajmg.a.32201. PMID: 18176953
Weiss JS
Trans Am Ophthalmol Soc 2007;105:616-48. PMID: 18427632Free PMC Article
Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML
Invest Ophthalmol Vis Sci 2007 Nov;48(11):5007-12. doi: 10.1167/iovs.07-0845. PMID: 17962451
Weiss JS
Ophthalmology 1996 Mar;103(3):465-73. doi: 10.1016/s0161-6420(96)30670-2. PMID: 8600424

Diagnosis

Weiss JS
Klin Monbl Augenheilkd 2016 Jun;233(6):708-12. Epub 2016 Jun 17 doi: 10.1055/s-0042-100735. PMID: 27315290
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Weiss JS
Ophthalmology 1996 Mar;103(3):465-73. doi: 10.1016/s0161-6420(96)30670-2. PMID: 8600424

Prognosis

Weiss JS
Klin Monbl Augenheilkd 2016 Jun;233(6):708-12. Epub 2016 Jun 17 doi: 10.1055/s-0042-100735. PMID: 27315290
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Weiss JS
Trans Am Ophthalmol Soc 2007;105:616-48. PMID: 18427632Free PMC Article
Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML
Invest Ophthalmol Vis Sci 2007 Nov;48(11):5007-12. doi: 10.1167/iovs.07-0845. PMID: 17962451
Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, Momi RS, Sampat KM, Gorin MB, Aldave AJ
Mol Vis 2007 Sep 24;13:1777-82. PMID: 17960116

Clinical prediction guides

Weiss JS
Klin Monbl Augenheilkd 2016 Jun;233(6):708-12. Epub 2016 Jun 17 doi: 10.1055/s-0042-100735. PMID: 27315290
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Jing Y, Liu C, Xu J, Wang L
Mol Vis 2009 Jul 29;15:1463-9. PMID: 19649163Free PMC Article
Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML
Invest Ophthalmol Vis Sci 2007 Nov;48(11):5007-12. doi: 10.1167/iovs.07-0845. PMID: 17962451
Vesaluoma MH, Linna TU, Sankila EM, Weiss JS, Tervo TM
Ophthalmology 1999 May;106(5):944-51. doi: 10.1016/S0161-6420(99)00514-X. PMID: 10328394

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