Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy
- N Yamada1,2,
- T-i Chikama1,
- N Morishige1,
- R Yanai1,2,
- T Nishida1,
- M Inui2,
- K Seki3
- 1Department of Biomolecular Recognition and Ophthalmology, Yamaguchi University School of Medicine, Ube City, Yamaguchi 755-8505, Japan
- 2Department of Pharmacology, Yamaguchi University School of Medicine, Ube City, Yamaguchi 755-8505, Japan
- 3Department of Ocular Pathophysiology, Yamaguchi University School of Medicine, Ube City, Yamaguchi 755-8505, Japan
- Correspondence to: Naoyuki Yamada, MD, PhD, Department of Biomolecular Recognition and Ophthalmology, Yamaguchi University School of Medicine, 1-1-1 Minami Kogushi, Ube City, Yamaguchi 755-8505, Japan; n.yamadapo.cc.yamaguchi-u.ac.jp
- Accepted 1 November 2004
Lattice corneal dystrophy (LCD), an inherited form of amyloidosis, is characterised by the development of lattice lines and opacity in the cornea. LCD is classified clinically into four subtypes: I, II, III, and IIIA. Several distinct mutations of TGFBI have been associated with LCDIIIA: P501T,1 L527R,2 N544S,3 A546T,4 N622K (T1913G and T1913A), and V627S.5 All cases of LCD characterised at the molecular genetic level to date have been attributed to heterozygous point mutations of TGFBI. We now present the first example of a homozygous point mutation of TGFBI in an individual with LCD, a diagnosis supported by clinical, histological, and molecular genetic findings.
Case report
A 52 year old Japanese man visited our corneal clinic in July 1997 with a main complaint of gradual impairment of vision. His parents, who were related, were no longer alive and he had no children. He had two brothers and four sisters. His reporting suggested that his father had had LCD and that his …
