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NR. 1 (I)/2007
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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 ¦l±skiej Akademii Medycznej w Katowicach
Kierownik: dr hab. n. med. Edward Wylęgała |
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| 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. |
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| Key words: |
lattice corneal dystrophy,
BIGH3 gene, Gelsolin gene. |
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