Genetyczne aspekty dystrofii siateczkowatej rogówki
Genetic Aspects of the Lattice Corneal Dystrophy
Edward Wylęgała1,2, Anna Nowińska1, Wojciech Mańkowski1
1Oddział Okulistyki Okręgowego Szpitala Kolejowego,
Samodzielny Publiczny Zakład Opieki Zdrowotnej w Katowicach
Ordynator: dr hab. n. med. Edward Wylęgała
2Zakład Pielęgniarstwa i Społecznych Problemów Medycznych Śląskiej Akademii Medycznej w Katowicach
Kierownik: dr hab. n. med. Edward Wylęgała
Summary: Corneal dystrophies are clinically and genetically heterogeneous group of disorders. The lattice corneal dystrophies (LCD) are characterized by the accumulation of amyloid within the cornea. It is usually an autosomal dominant condition, and it is the most common of stromal dystrophies. Different subtypes exist: type I, IA, IIIa, IV, VI and VII, which are due to the BIGH3 gene mutation localized on chromosome 5q31 and type II is due to the gelsolin gene mutation localized on chromosome 9q34. The purpose of this article is to present a variety of mutations responsible for different types of lattice corneal dystrophy. Over 30 mutations causing LCD and GCD have been identified so far in the BIGH3 gene. There is one mutation hotspot for LCD type I localized at position 124. R124C mutation is the common mutation described in various population including American, Japanese, Chinese, Bulgarian, Ukrainian, British and others. Two mutations in the gelsolin gene on chromosome 9q34 have been shown to cause amyloidosis type V. The first converts aspartic acid to asparagine at residue 187 (D187N). This is the common mutation found in all Finnish patients as well as in the American, Japanese and British families. Other types of lattice corneal dystrophies described in our article include LCD III, IIIa and LCD with deep stromal opacities.
Keywords: lattice corneal dystrophy, BIGH3 gene, Gelsolin gene.