Corneal Dystrophies (Developments in Ophthalmology) by W. Lisch, B. Seitz, F. Bandello

By W. Lisch, B. Seitz, F. Bandello

Corneal dystrophies (CD) are bilateral hereditary problems of the cornea within which one or a number of components of the cornea lose their transparency. because the dystrophy can begin in several layers of the cornea, they're categorized therefore as epithelial dystrophies, stromal dystrophies and endothelial dystrophies. This quantity incorporates a description of the recent overseas IC3D type of CD reflecting what we at the moment be aware of of the scientific, pathological, and genetic elements of those issues. extra contributions supply an perception into differential diagnostics and histology, that could determine the prognosis as for example in granular CD kind 2, in addition to DNA research of CD delivering additional info concerning the pathogenesis. additionally, techniques akin to the phototherapeutic keratectomy with the excimer laser, the hot modalities of lamellar keratoplasty, and penetrating keratoplasty are defined. This booklet holds a wealth of recent and topical info on CD for ophthalmologists and geneticists alike.

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References 1 Lisch W, Seitz B: Neue internationale Klassifikation der Hornhautdystrophien und klinische ‘Schlüsselbefunde’. Klin Monatsbl Augenheilkd 2008;225: 616–622. 22 2 Wiggs JL: Genotypes need phenotypes. Arch Ophthalmol 2010;128:934–935. Lisch · Seitz 3 Weiss JS, Moeller HU, Lisch W, et al: The IC3D classification of the corneal dystrophies. Cornea 2008; 27(suppl 2):S1–S83. 4 Butros S, Lang GK, Alvarez de Toledo J, et al: Die verschiedenen Trübungsmuster der Lisch-Hornhautdystrophie. Klin Monatsbl Augenheilkd 2006; 223:837–840.

Although the majority can be diagnosed on clinical examination based on typical clinical features like age of onset, bilaterality, characteristic pattern and depth of opacities, sparing of the limbus and lack of inflammatory signs, nevertheless, the presence of secondary changes like scarring, degeneration and vascularization can mask the clinical features of the dystrophy thus posing diagnostic dilemmas [3, 4]. It is also well known that clinical manifestations vary widely with different phenotypes of the same dystrophy; for example, granular dystrophy has two distinct clinical phenotypes.

Granular Corneal Dystrophy Type 2 GCD type 2 is also known as Avellino corneal dystrophy, and combined granularlattice corneal dystrophy (MIM No. 607541). The presence of both hyaline and amyloid deposits resulted in the diagnosis of combined GCD and LCD [66]. These deposits show positivity to Masson’s trichrome stain, negative staining or faint staining with Congo red, but no birefringence under polarized light, or fluorescence with thioflavin T as was reported in a case of recurrence after laser-assisted in situ keratomileusis (LASIK) [67].

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