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JA Myers, TF Mauger, EL Craig; Dominantly Inherited Corneal Stem Cell Dystrophy without Aniridia . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1721.
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Purpose: To present a family with a novel dominantly inherited corneal dystrophy. Method: Eight patients representing 3 generations ranging in age from 12 to 64 were examined in a family with a history of corneal dystrophy. Penetrating keratoplasty was performed on three eyes of two patients and histological specimens were characterized. Results: Each of the eight family members examined were found to have varying degrees of bilateral superficial peripheral corneal clouding. Peripheral corneal opacity with vascularization was noted in all of the affected patients. Two of the patients demonstrated Salzmann's-like nodules and ectropion uveae with corectopia. One patient also had peripheral anterior synecchiae. The histological examination of the corneal buttons revealed scarred anterior stroma with fibrovascular pannus. The basement membrane, as well as Bowman's membrane, were thin. Descemet's membrane was uniform and the endothelium was normal. Patients had normal intraocular pressures and unremarkable ophthalmoscopy. Conclusion: The presentation of the disease in three successive generations suggests an autosomal dominantly inherited corneal stem cell dystrophy characterized by fibrovascular changes and corneal clouding without associated aniridia. A similar degeneration has been described as autosomal dominant keratitis. However, this condition included macular hypoplasia, which was not present in our series. The autosomal dominant nature of the dystrophy suggests that it may be related to a PAX6 gene mutation. CR: None
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