Clinical Features of a Newly Recognized Type of Lattice Corneal Dystrophy

Hida, Tetsuo; Tsubota, Kazuo; Kigasawa, Kazuteru; Murata, Hiroyuki; Ogata, Tetsuya; Akiya, Shinobu

doi:10.1016/0002-9394(87)90411-9

Cited by 47 publications

(11 citation statements)

References 14 publications

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“…This type has a presumably autosomal recessive mode of inheritance and affects Japanese individuals. 4 LCD type IIIA, also of late onset, in contrast has an autosomal dominant inheritance, and is characterised by thick "ropy" lattice lines extending across the cornea frequently associated with superficial corneal erosions. 5 The human transforming growth factor β induced gene, TGFBI (BIG-H3) was identified by Skonier et al 6 In 1997, Munier et al identified mutations in the TGFBI for four distinct autosomal dominant corneal dystrophies: R555W with granular corneal dystrophy type 1, R124H with Avellino, R555Q with Reis-Bucklers, and R124C with LCDI in white people.…”

mentioning

confidence: 99%

H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people

Chau¹

2003

British Journal of Ophthalmology

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Background/aims: Mutations of the human transforming growth factor β induced gene (TGFBI) were reported to cause lattice corneal dystrophy (LCD) in various nationalities. This study analysed the TGFBI gene in Vietnamese people with LCD. Methods: 13 unrelated families, including 34 patients and 21 unaffected members were examined. 50 normal Vietnamese people served as controls. Blood samples were collected. Genomic DNA was extracted from leucocytes. Analysis of TGFBI gene was performed using the polymerase chain reaction and direct sequencing. Corneal buttons were studied histopathologically. Results: Two clinically distinguishable forms of LCD were revealed: one was typical of LCDI; the other was characterised by the late onset, thick lattice lines, and asymmetry between two eyes. Sequencing of the TGFBI gene revealed R124C mutation in three families and H626R mutation in 10 families. Congo red staining of the H626R-LCD cornea showed amyloid deposits in the subepithelial and stromal layers. Conclusions: R124C and H626R mutations of TGFBI gene caused LCD in Vietnamese people. R124C, a common cause of LCDI in many nationalities, was relatively rare, whereas H626R reported in several white people but not yet in Asians was most common (>75%) in Vietnamese people. Since the phenotype caused by H626R represents a new variant intermediate between LCDI and LCDIIIA, we proposed to consider it as LCD type IIIB.

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confidence: 99%

H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people

Chau¹

2003

British Journal of Ophthalmology

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“…Lattice lines extend from limbus to limbus, are thicker and are more easily seen with direct illumination than that of LCD type I. 4,7 LCD type III A differs from the type III by the presence of erosions, the occurrence in whites and the autosomal dominant inheritance pattern.…”

Section: Unilateral Lattice Dystrophy In An Elderly Patientmentioning

confidence: 94%

“…1,3 Visual acuity becomes progressively impaired and most patients require a corneal transplant by 40 years of age. 4 LCD type II is associated with systemic amyloidosis (Meretoja's syndrome). 5 The lattice lines in LCD type II are thicker and more peripheral than those of LCD type I.…”

Section: Unilateral Lattice Dystrophy In An Elderly Patientmentioning

confidence: 99%

Unilateral lattice dystrophy in an elderly patient

Sridhar

Pandrowala

Rao

2002

Eye

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“…Hida et al [1,2] described an unrecognized type of lattice corneal dystrophy and designat ed it as lattice corneal dystrophy type III. They reported 5 patients, and all cases were Japa nese.…”

Section: Discussionmentioning

confidence: 99%

“…Les auteurs sont invités à illustrer leurs rapports à l'aide de photographies de leurs observations macroscopiques et microscopiques. Les Lattice corneal dystrophy type III was first reported in 5 Japanese patients with an un described type of lattice corneal dystrophy and designated by Hida et al [1,2] in 1987. While lattice corneal dystrophy is usually bilateral, some reports described unilateral cases with one cornea being clear or having discrete rath er than linear opacities.…”

Section: Prof Dr Fritz Stéfanimentioning

confidence: 99%