More on Schnyder Corneal Dystrophy

I write concerning the recent report of Kobayashi et al.1Kobayashi A. Fujiki K. Murakami A. Sugiyama K. In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.Ophthalmology. 2009; 116: 1029-1037Abstract Full Text Full Text PDF PubMed Scopus (22) Google Scholar The authors solely credit Orr et al2Orr A. Dube M.P. Maracadier J. et al.Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.PloS ONE (serial online). 2007; 2: e685Crossref Scopus (111) Google Scholar with identification of the UBIAD1 gene as the cause of Schnyder corneal dystrophy (SCD), but I would like to point out that our group3Weiss J.S. Kruth H.S. Kuivaniemi H. et al.Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.Invest Ophthalmol Vis Sci. 2007; 48: 5007-5012Crossref PubMed Scopus (94) Google Scholar independently discovered and published the finding that mutations in UBIAD1 gene caused SCD. Although the figure legends for the slit lamp photographs emphasize the central disciform opacity, crystalline deposits, and arcus lipoides; all of their patients also demonstrate the classic midperipheral corneal haze that is noted in patients 40 years of age and older but is often not appreciated. The authors reference an earlier publication of mine in which I introduced the name, Schnyder crystalline corneal dystrophy (SCCD) sine crystals to emphasize the acrystalline variety of SCD. The authors state that “in some cases a disciform opacity is present without evidence of crystals,”1Kobayashi A. Fujiki K. Murakami A. Sugiyama K. In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.Ophthalmology. 2009; 116: 1029-1037Abstract Full Text Full Text PDF PubMed Scopus (22) Google Scholar but I would like to emphasize that the acrystalline variety of the disease occurs very commonly, in up to 46% of affected individuals.4Weiss J.S. Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (An American Ophthalmological Society Thesis).Trans Am Ophthalmol Soc. 2007; 105: 616-648PubMed Google Scholar Recently, we have published a revision of the corneal dystrophy nomenclature and SCCD has been renamed Schnyder corneal dystrophy (SCD)5Weiss J.S. Møller H. Lisch W. et al.The IC3D classification of corneal dystrophies.Cornea. 2008; 27: S1-S42Crossref PubMed Scopus (274) Google Scholar in order to deemphasize the finding of corneal crystals. Author replyOphthalmologyVol. 116Issue 11PreviewWe appreciate the interest and important comments from Dr. Weiss regarding our article on Schnyder corneal dystrophy. Full-Text PDF