A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation

British Journal of Ophthalmology

Volumn 92, Issue 3, 2008, Pages 426-427

  Yellore, V S ^a   Sonmez, B ^a   Rayner, S A ^a   Aldave, A J ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA1;

ADULT; CASE REPORT; CORNEA DYSTROPHY; DISEASE ASSOCIATION; DNA SEQUENCE; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; LETTER; OPTOMETRY; PATHOGENESIS; PRIORITY JOURNAL; SLIT LAMP; VISUAL ACUITY;

CORNEAL DYSTROPHIES, HEREDITARY; FEMALE; HUMANS; MIDDLE AGED; MUTATION; TRANSFORMING GROWTH FACTOR BETA1;

EID: 40549102792     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2007.120352     Document Type: Letter

References (13)

1. Stewart H, Black GC, Donnai D, et al. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology 1999;106:964-70.
2. Nakagawa Asahina S, Fujiki K, Enomoto Y, et al. [Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene]. Nippon Ganka Gakkai Zasshi 2004;108:618-20.
3. Hirano K, Hotta Y, Nakamura M, et al. Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. Cornea 2001;20:525-9.
4. Aldave AJ, Rayner SA, Kim BT, et al. Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. Mol Vis 2006;12:142-6.
5. Tanhehco TY, Eifrig DE Jr, Schwab IR, et al. Two cases of Reis-Bucklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene. Arch Ophthalmol 2006;124:589-93.
6. Aldave AJ, Rayner SA, King JA, et al. A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. Ophthalmology 2005;112:1017-22.
7. Aldave AJ. The clinical utility of genetic analysis in the diagnosis and management of inherited corneal disorders. Contemporary Ophthalmology 2005;4:1-10.
8. Aldave AJ, Lin DY, Principe AH, et al. Anterior basement membrane corneal dystrophy and pseudounilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. Am J Ophthalmol 2004;137:1124-7.
9. Aldave AJ, Principe AH, Lin DY, et al. Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis. Cornea 2005;24:112-5.
10. Aldave AJ, Rayner SA, King JA, et al. No pathogenic mutations identified in the TGFBI gene in polymorphic corneal amyloid deposition. Cornea 2006;25:413-5.
11. Fujiki K, Nakayasu K, Kanai A. Corneal dystrophies in Japan. J Hum Genet 2001;46:431-5.
12. Afshari NA, Mullally JE, Afshari MA, et al. Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. Arch Ophthalmol 2001;119:16-22.
13. Chakravarthi SV, Kannabiran C, Sridhar MS, et al. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. Invest Ophthalmol Vis Sci 2005;46:121-5.