Abstract
This study includes the fourteen Icelanders who had penetrating keratoplasty for macular corneal dystrophy during 1974 through 1988, and a further five patients whose deterioration of vision has so far not led to surgery. The clinical presentation, mode of inheritance and the course of the disease were similar to those seen in other studies. The genealogical part of this study indicates that the gene responsible for the disease was already present in Iceland in the 18th century. Though consanguinity, as usually defined, was found to be uncommon, the relatively small pool of genes in the Icelandic population which numbers at present about 250,000 has led to higher prevalence of macular corneal dystrophy than elsewhere. The histopathological findings concur with the conventional description of macular corneal dystrophy, with the exception of two patients with unusually severe photophobia. In these two cases, electron microscopy revealed that the most anteriorly situated deposits were sometimes associated with increased electron-density of small clusters of basal epithelial cells in the overlying epithelium, such cells also being reduced in size and exhibiting few organelles other than swollen mitochondria.
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Waring GO, Rodrigues MM, Laibson PR : Corneal Dystrophies. I. Dystrophies of the Epithelium, Bowman's Layer and Stroma. Surv Ophthalmol 1978, 23: 71–120.
Groenouw A : Knötchenförmige Hornhauttrübungen. Arch Augenheilkd 1980, 21: 281–9.
Bücklers M : Die Erblichen Hornhautdystrophien: Dystrophiae corneae hereditariae. Bücherei des Augenarztes, (F. Enke, Stuttgart). Klin Monatsbl Augenheilkd 1938, suppl 3: 60–101.
Robin AL, Richard Green W, Lapsa TP, Hoover RE, Kelly JS : Recurrence of macular corneal dystrophy after lamellar keratoplasty. Am J Ophthamol 1977, 84: 457–61.
Klintworth GK, Reed J, Stainer GA, Binder P : Recurrence of macular corneal dystrophy within grafts. Am J Ophthalmol 1983, 95: 60–72.
Hassel JR, Newsome DA, Krachmer JH, Rodrigues M : Macular corneal dystrophy: failure to synthesize mature keratan sulphate proteoglycan. Proc Natl Sci USA 1980, 77: 3705–9.
Bruner WE, Dejak TR, Grossniklaus HE, Stark WJ, Young E : Corneal alpha-galactosidase deficiency in macular corneal dystrophy. Ophthalmol Pediaet Genet 1985, 5: 179–83.
Yang JC, SundarRaj N, Thonar EJMA, Klintworth GK : Immunohistochemical evidence of heterogeneity in macular corneal dystrophy. Am J Ophthamol 1988, 106: 65–71.
Garner A : Histochemistry of corneal macular dystrophy. Invest Ophthalmol 1969, 8: 475–83.
Johannsson JH, Jonasson F : Methenamine-Silver staining in Macular Corneal Dystrophy. Am J Ophthalmol 1988, 106: 630–1.
Klintworth GK : Macular corneal dystrophy—a localised disorder of mucopolysaccharide metabolism? In Donna L Daentl ed. “Clinical, Structural and Biochemical Advances in Hereditary Eye Disorders”, New York, Alan R. Liss Inc., 1982, 69–101.
Möller HU : Personal communication. 1988.
Robin JB, Gindi JJ, Koh K, Schanzlin DJ, Narsing RA, York KK, Smith RE : An update of the indications for penetrating keratoplasty. Arch Ophthalmol 1986, 104: 87–9.
Hidemann GG, Sugar A, Meyer RF, Musch DC : Oversized donor grafts in penetrating keratoplasty. Arch Ophthalmol 1985, 103: 1807–11.
Baun O, Gregersen E, Prause JU : Irreversible immune reactions following keratoplasty. Acta Ophthalmol (Copenh) 1987, 65: 641–7.
Casey TA, Mayer DJ : Corneal Grafting. WB Saunders Company 1984, 84.
Jones ST and Zimmerman LE : Macular dystrophy of the cornea (Groenouw type II), clinicopathologic report of two cases with comments concerning its differential diagnosis from lattice dystrophy (Biber-Dimmer-Haab). Am J Ophthalmol 1959, 47: 1–16.
Klintworth GK and Vogel FS : Macular corneal dystrophy: an inherited acid mucopolysaccharide storage disease of the corneal fibroblast. Am J Pathol 1964, 45: 565–86.
Morgan G : Macular dystrophy of the cornea. Br J Ophthalmol 1966, 50: 57–67.
Tremblay M and Dube I : Macular dystrophy of the cornea: ultrastructure of two cases. Can J Ophthalmol 1973, 8: 47–53.
Snip RC, Kenyon KR, Green WR : Macular corneal dystrophy: ultrastructural pathology of corneal endothelium and Descemet's membrane. Invest Ophthalmol 1973, 12: 88–97.
Klintworth GK : Disorders of glycosaminoglycans (mucopolysaccharides) and proteoglycans. In Garner A, Klintworth GK eds. Pathobiology of ocular disease: a dynamic approach. New York: Marcel Dekker 1982, 863–895.
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Presented at the Scottish Ophthalmological Club meeting, Edinburgh, October 1988.
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Jonasson, F., Johannsson, J., Garner, A. et al. Macular corneal dystrophy in Iceland. Eye 3, 446–454 (1989). https://doi.org/10.1038/eye.1989.66
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DOI: https://doi.org/10.1038/eye.1989.66
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