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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).
Autosomal recessive inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Punctate opacification of the cornea
MedGen UID:
867207
•Concept ID:
C4021565
•
Finding
Punctate opacification (reduced transparency) of the corneal stroma.
See: Feature record | Search on this feature
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Term Hierarchy

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

Professional guidelines

PubMed

Phenotype and genotype analysis in patients with macular corneal dystrophy.
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
Deep anterior lamellar keratoplasty for the treatment of stromal corneal dystrophies.
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

Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature.
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
Characterization of In Vivo Biomechanical Properties in Macular Corneal Dystrophy.
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
Deep anterior lamellar keratoplasty outcomes in macular and granular corneal dystrophy - A comparative cross-sectional study.
Kodavoor SK, Deb B, Ramamurthy D
Indian J Ophthalmol 2019 Nov;67(11):1830-1833. doi: 10.4103/ijo.IJO_1623_18. PMID: 31638043Free PMC Article
Macular Corneal Dystrophy and Posterior Corneal Abnormalities.
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
Heterogeneity in macular corneal dystrophy.
Edward DP, Yue BY, Sugar J, Thonar EJ, SunderRaj N, Stock EL, Tso MO
Arch Ophthalmol 1988 Nov;106(11):1579-83. doi: 10.1001/archopht.1988.01060140747049. PMID: 3056354

Diagnosis

Macular Corneal Dystrophy: An Updated Review.
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
Characterization of In Vivo Biomechanical Properties in Macular Corneal Dystrophy.
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
Macular corneal dystrophy: A review.
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
Macular Corneal Dystrophy and Posterior Corneal Abnormalities.
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
Phenotype and genotype analysis in patients with macular corneal dystrophy.
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

Complications in deep anterior lamellar keratoplasty - A retrospective interventional analysis in a large series.
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
Excimer laser phototherapeutic keratectomy in conjunction with mitomycin C in corneal macular and granular dystrophies.
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
Deep anterior lamellar keratoplasty versus penetrating keratoplasty for macular corneal dystrophy: a randomized trial.
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
Fixed dilated pupil after penetrating keratoplasty for macular corneal dystrophy and keratoconus.
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
Macular corneal dystrophy: the macromolecular structure of the stroma observed using electron microscopy and synchrotron X-ray diffraction.
Meek KM, Quantock AJ, Elliott GF, Ridgway AE, Tullo AB, Bron AJ, Thonar EJ
Exp Eye Res 1989 Dec;49(6):941-58. doi: 10.1016/s0014-4835(89)80018-1. PMID: 2515072

Prognosis

Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.
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
Macular Corneal Dystrophy: An Updated Review.
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
Macular corneal dystrophy: A review.
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
Macular Corneal Dystrophy and Posterior Corneal Abnormalities.
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
Macular corneal dystrophy: in vivo confocal and structural data.
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

Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.
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
Phototherapeutic Keratectomy in Macular and Granular Dystrophy: Two-year Results.
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
Characterization of In Vivo Biomechanical Properties in Macular Corneal Dystrophy.
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
Macular Corneal Dystrophy and Posterior Corneal Abnormalities.
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
Macular corneal dystrophy: in vivo confocal and structural data.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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