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DOI: 10.1055/a-2219-8288
Macular Corneal Dystrophy – Molecular Genetics as the Key in Treatment-Refractory Keratopathy
Makuläre Hornhautdystrophie – Molekulargenetik als Wegweiser bei der Diagnosestellung von therapierefraktären Keratopathien
Introduction and Purpose
Macular corneal dystrophy (MCD) is a severe and rare form of corneal dystrophy. It usually develops in childhood or adolescence [1], [2] and is a genetic disorder with an autosomal recessive pattern of inheritance. MCD is characterized by the formation of progressive bilateral scattered gray-white punctuate opacities in the corneal stroma and central corneal thinning. It typically starts centrally, which then progressively extends to the periphery and eventually involves the entire corneal thickness. If left untreated, MCD leads to bilateral deterioration of visual acuity. Currently, the most effective treatment is corneal transplantation [1], [2]. Even though recurrence of MCD is rare, it may occur many decades after penetrating keratoplasty (PKP), which remains the gold standard in the cure of MCD for long-term visual rehabilitation.
Publication History
Received: 11 November 2023
Accepted: 28 November 2023
Article published online:
23 April 2024
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References
- 1 Wang L, Tang X, Lv X. et al. CHST6 mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy. Oncotarget 2017; 8: 96301-96312 DOI: 10.18632/oncotarget.22028.
- 2 Safari I, Baradaran-Rafii A, Issazadeh-Navikas S. et al. CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system. Int Ophthalmol 2020; 40: 2223-2235 DOI: 10.1007/s10792-020-01401-9.
- 3 Singh S, Das S, Kannabiran C. et al. Macular corneal dystrophy: an updated review. Curr Eye Res 2021; 46: 765-770
- 4 Traboulsi EI. ed. Genetic Diseases of the Eye. 2nd ed.. ed. Oxford, New York: Oxford University Press Inc.; 2012: 268-270
- 5 Klintworth GK, Smith CF, Bowling BL. CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. Mol Vis 2006; 12: 159-176
- 6 Evans CJ. Molecular genetics and genotype phenotype correlation of inherited corneal dystrophies [Dissertation]. University College London; Accessed December 13, 2023 at: https://discovery.ucl.ac.uk/id/eprint/1575644/1/CerysEvansCorrectedThesis_FINAL.pdf
- 7 Niel F, Ellies P, Dighiero P. et al. Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. Invest Ophthalmol Vis Sci 2003; 44: 2949-2953 DOI: 10.1167/iovs.02-0740.
- 8 Zhang J, Wu D, Li Y. et al. A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy. Aging (Albany NY) 2019; 11: 1019-1029 DOI: 10.18632/aging.101807.
- 9 Richardson CD, Ray GJ, DeWitt MA. et al. Enhancing homology-directed genome editing by catalytically active and inactive CRISPR-Cas9 using asymmetric donor DNA. Nat Biotechnol 2016; 34: 339-344 DOI: 10.1038/nbt.3481.
- 10 Souzeau E, Siggs OM, Mullany S. et al. Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort. Mol Genet Genomic Med 2022; 10: e2023 DOI: 10.1002/mgg3.2023.