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Macular corneal dystrophy(MCD)

MedGen UID:
351514
Concept ID:
C1636149
Disease or Syndrome
Synonyms: Groenouw type II corneal dystrophy; Macular corneal dystrophy Type I; Macular dystrophy, corneal type 1; MCD
SNOMED CT: Macular corneal dystrophy Type I (418054005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CHST6 (16q23.1)
 
Monarch Initiative: MONDO:0009020
OMIM®: 217800
Orphanet: ORPHA98969

Definition

Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000). [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
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.
Recurrent corneal erosions
MedGen UID:
56353
Concept ID:
C0155119
Disease or Syndrome
The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
Macular dystrophy
MedGen UID:
196451
Concept ID:
C0730292
Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
Punctate opacification of the cornea
MedGen UID:
867207
Concept ID:
C4021565
Finding
Punctate opacification (reduced transparency) of the corneal stroma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMacular corneal dystrophy

Professional guidelines

PubMed

Spindler J, Koller S, Graf U, Berger W, Gerth-Kahlert C, Blaser F
Klin Monbl Augenheilkd 2024 Apr;241(4):398-401. Epub 2024 Apr 23 doi: 10.1055/a-2219-8288. PMID: 38653268
Nowinska AK, Wylegala E, Teper S, Wróblewska-Czajka E, Aragona P, Roszkowska AM, Micali A, Pisani A, Puzzolo D
Br J Ophthalmol 2014 Nov;98(11):1514-21. Epub 2014 Jun 11 doi: 10.1136/bjophthalmol-2014-305098. PMID: 24926691
Unal M, Arslan OS, Atalay E, Mangan MS, Bilgin AB
Cornea 2013 Mar;32(3):301-5. doi: 10.1097/ICO.0b013e31825718ca. PMID: 22790186

Recent clinical studies

Etiology

Zhang BN, Qi B, Dong C, Zhang B, Cheng J, Wang X, Li S, Zhuang X, Chen S, Duan H, Li D, Zhu S, Li G, Cao Y, Zhou Q, Xie L
Sci China Life Sci 2024 Feb;67(2):332-344. Epub 2023 Jul 11 doi: 10.1007/s11427-023-2364-3. PMID: 37480470
Wu M, Han J, Wang X, Shao T, Wang Y
Eye (Lond) 2023 Feb;37(3):492-500. Epub 2022 Feb 16 doi: 10.1038/s41433-022-01965-z. PMID: 35173270Free PMC Article
Shields M, Craig JE, Souzeau E, Gupta A
Ophthalmic Genet 2020 Aug;41(4):368-372. Epub 2020 Jun 16 doi: 10.1080/13816810.2020.1776335. PMID: 32543930
Feizi S, Karjou Z, Abbasi H, Javadi MA, Azari AA
Am J Ophthalmol 2020 Jul;215:8-13. Epub 2020 Mar 20 doi: 10.1016/j.ajo.2020.03.003. PMID: 32205123
Rubinstein Y, Weiner C, Einan-Lifshitz A, Chetrit N, Shoshany N, Zadok D, Avni I, Pras E
Cornea 2016 Dec;35(12):1605-1610. doi: 10.1097/ICO.0000000000001054. PMID: 27755187

Diagnosis

Li D, Tian L, Wang X, Chen M
BMC Med Genomics 2021 Oct 13;14(1):247. doi: 10.1186/s12920-021-01095-7. PMID: 34645431Free PMC Article
Singh S, Das S, Kannabiran C, Jakati S, Chaurasia S
Curr Eye Res 2021 Jun;46(6):765-770. Epub 2020 Nov 29 doi: 10.1080/02713683.2020.1849727. PMID: 33171054
Aggarwal S, Peck T, Golen J, Karcioglu ZA
Surv Ophthalmol 2018 Sep-Oct;63(5):609-617. Epub 2018 Mar 28 doi: 10.1016/j.survophthal.2018.03.004. PMID: 29604391
Rubinstein Y, Weiner C, Einan-Lifshitz A, Chetrit N, Shoshany N, Zadok D, Avni I, Pras E
Cornea 2016 Dec;35(12):1605-1610. doi: 10.1097/ICO.0000000000001054. PMID: 27755187
Nowinska AK, Wylegala E, Teper S, Wróblewska-Czajka E, Aragona P, Roszkowska AM, Micali A, Pisani A, Puzzolo D
Br J Ophthalmol 2014 Nov;98(11):1514-21. Epub 2014 Jun 11 doi: 10.1136/bjophthalmol-2014-305098. PMID: 24926691

Therapy

Balıkçı AT, Burcu A, Akkaya ZY, Singar E, Uzman S
Arq Bras Oftalmol 2024;87(3):e20230109. Epub 2024 Mar 22 doi: 10.5935/0004-2749.2023-0109. PMID: 38537050
Kodavoor SK, Rathi N, Dandapani R
Indian J Ophthalmol 2022 Oct;70(10):3501-3507. doi: 10.4103/ijo.IJO_655_22. PMID: 36190035Free PMC Article
Yuksel E, Cubuk MO, Eroglu HY, Bilgihan K
Arq Bras Oftalmol 2016 Apr;79(2):69-72. doi: 10.5935/0004-2749.20160022. PMID: 27224065
Sogutlu Sari E, Kubaloglu A, Unal M, Pinero D, Bulut N, Erol MK, Özertürk Y
Am J Ophthalmol 2013 Aug;156(2):267-274.e1. Epub 2013 Apr 24 doi: 10.1016/j.ajo.2013.03.007. PMID: 23622562
Jastaneiah S, Al-Towerki AE, Al-Assiri A
Am J Ophthalmol 2005 Sep;140(3):484-9. doi: 10.1016/j.ajo.2005.04.029. PMID: 16084784

Prognosis

Hao XD, Liu YN, Hu SH, Pan XJ, Chen P
Exp Eye Res 2022 Jan;214:108862. Epub 2021 Nov 24 doi: 10.1016/j.exer.2021.108862. PMID: 34826417
Singh S, Das S, Kannabiran C, Jakati S, Chaurasia S
Curr Eye Res 2021 Jun;46(6):765-770. Epub 2020 Nov 29 doi: 10.1080/02713683.2020.1849727. PMID: 33171054
Aggarwal S, Peck T, Golen J, Karcioglu ZA
Surv Ophthalmol 2018 Sep-Oct;63(5):609-617. Epub 2018 Mar 28 doi: 10.1016/j.survophthal.2018.03.004. PMID: 29604391
Rubinstein Y, Weiner C, Einan-Lifshitz A, Chetrit N, Shoshany N, Zadok D, Avni I, Pras E
Cornea 2016 Dec;35(12):1605-1610. doi: 10.1097/ICO.0000000000001054. PMID: 27755187
Micali A, Pisani A, Puzzolo D, Nowińska A, Wylegala E, Teper S, Czajka E, Roszkowska AM, Orzechowska-Wylegala B, Aragona P
Ophthalmology 2014 Jun;121(6):1164-73. Epub 2014 Feb 1 doi: 10.1016/j.ophtha.2013.12.012. PMID: 24491640

Clinical prediction guides

Wu M, Han J, Wang X, Shao T, Wang Y
Eye (Lond) 2023 Feb;37(3):492-500. Epub 2022 Feb 16 doi: 10.1038/s41433-022-01965-z. PMID: 35173270Free PMC Article
Hao XD, Liu YN, Hu SH, Pan XJ, Chen P
Exp Eye Res 2022 Jan;214:108862. Epub 2021 Nov 24 doi: 10.1016/j.exer.2021.108862. PMID: 34826417
Kemer Atik B, Yildirim Y, Sonmez O, Gumus G, Kepez Yildiz B, Agca A
Semin Ophthalmol 2020 Apr 2;35(3):182-186. Epub 2020 Jun 12 doi: 10.1080/08820538.2020.1778743. PMID: 32529934
Rubinstein Y, Weiner C, Einan-Lifshitz A, Chetrit N, Shoshany N, Zadok D, Avni I, Pras E
Cornea 2016 Dec;35(12):1605-1610. doi: 10.1097/ICO.0000000000001054. PMID: 27755187
Micali A, Pisani A, Puzzolo D, Nowińska A, Wylegala E, Teper S, Czajka E, Roszkowska AM, Orzechowska-Wylegala B, Aragona P
Ophthalmology 2014 Jun;121(6):1164-73. Epub 2014 Feb 1 doi: 10.1016/j.ophtha.2013.12.012. PMID: 24491640

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