Combined granular lattice dystrophy (Avellino corneal dystrophy)

Kennedy, S.; McNamara, Morgan P.; Hillery, M.; Hurley, C.; Collum, L. M. T.; Giles, Sam

doi:10.1136/bjo.80.5.489

Cited by 16 publications

(10 citation statements)

References 10 publications

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“…In addition to these amyloid deposits located in the superficial stroma, amyloid was also noted in the mid- to deep stromal fusiform lesions 4. These findings have been confirmed by many other investigators 3, 8, 11, 15, 24. Thus, ACD can be histopathologically defined as having both trichrome-stained hyaline deposits (corresponding to granular deposits) and Congo red or ThT-stained amyloid deposits (corresponding to lattice deposits).…”

Section: Discussionsupporting

confidence: 72%

“…Avellino corneal dystrophy (ACD) manifests both granular and lattice deposits, for which reason it is also referred to as “Combined granular-lattice corneal dystrophy” 3. In 1988, Folberg reported the histopathological findings of patients with this corneal dystrophy and traced the family origins of each patient to the Italian province of Avellino, from which the dystrophy gets its name 4.…”

Section: Introductionmentioning

confidence: 99%

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Granular and Lattice Deposits in Corneal Dystrophy Caused by R124C Mutation of TGFBIp

Patel

Chang

Harocopos

et al. 2010

Cornea

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Purpose-Both granular and lattice deposits are present in Avellino corneal dystrophy (ACD), primarily associated with R124H mutation of transforming growth factor β-induced protein (TGFBI). We investigated the presence of these deposits in other TGFBI mutations and the use of Thioflavin-T (ThT), a fluorescent amyloid stain for characterizing corneal amyloid deposits.Methods-Surgical corneal specimens of three unrelated patients clinically diagnosed with ACD were studied. Corneal sections from normal and prior patients with lattice corneal dystrophy (LCD) were used as controls. Histochemical studies were performed with Congo red and Masson trichrome, and fluorescent imaging with scanning laser confocal microscopy was performed for ThT and an anti-TGFBI antibody staining.Results-Clinical and histopathological findings supported the diagnoses of ACD in these three cases, in whom granular deposits stained with Masson trichrome and lattice deposits stained with ThT and Congo red showing birefringence and dichroism as expected. However, genotyping revealed a heterozygous R124C mutation in each case. In addition to classical stromal deposits, unique subepithelial TGFBI aggregates, that stain with neither ThT nor trichrome, were observed. In control LCD sections, stromal deposits stained with ThT but not with trichrome, confirming lack of granular deposits.Conclusions-Our results demonstrate that both granular and lattice deposits can be associated with R124C mutation, other than R124H. An additional feature of non-hyaline, non-amyloid TGFBI sub-epithelial deposits might substantiate such cases be categorized as a variant form of LCD or ACD. This study further validates ThT staining for detection of amyloid TGFBI deposits.

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Section: Discussionsupporting

confidence: 72%

Section: Introductionmentioning

confidence: 99%

Granular and Lattice Deposits in Corneal Dystrophy Caused by R124C Mutation of TGFBIp

Patel

Chang

Harocopos

et al. 2010

Cornea

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“…7 The R124H mutation known to be associated with Avellino corneal dystrophy (ACD) (OMIM 121900) was initially described in families originating from the Italian province near Naples. 8 Subsequently, with widespread availability of molecular diagnostic techniques, it has also been reported from Germany, 3 Ireland, 9 Europe, 7 Japan, [10][11][12] France, 13 South Korea, 14,15 the United Kingdom, 16 and Iran. 17 Despite specific TGFBI mutations being associated with each of these corneal dystrophies, atypical and variable phenotypes [18][19][20][21] along with extensive intrafamilial and interfamilial variations 22 are seen and genotype-phenotype correlation is not always possible.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Genetic Profile of Avellino Corneal Dystrophy in 2 Families From North India

Paliwal

Gupta²,

Tandon³

et al. 2009

Arch Ophthalmol

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Objective: To report Avellino corneal dystrophy and underlying R124H mutation in 2 families of Indian origin.Methods: Peripheral blood was collected in EDTA for genomic DNA isolation from leukocytes of all affected and unaffected individuals. Amplification of transforming growth factor ␤-induced gene (TGFBI) using polymerase chain reaction followed by direct sequencing was carried out to determine the mutations underlying the disorder. A detailed clinical evaluation was undertaken to establish a genotype-phenotype correlation.Results: R124H mutation resulting from a missense heterozygous substitution of G to A at nucleotide 418 of TGFBI was detected in all affected members of the 2 families. The affected individuals were clinically diagnosed as having granular corneal dystrophy. Histopathologi-cal examination was not done because no surgical intervention was undertaken.

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“…2 Takip eden yıllarda ülkemiz de dahil olmak üzere dünyanın birçok yerinden yeni vakalar bildirilmiştir. [3][4][5][6][7][8] Konfokal mikroskopi kornea yapısını hücresel seviyede inceleyen, girişimsel olmayan bir görüntüleme yöntemidir. Konfokal mikroskopinin yüksek aksiyel ve lateral çözünürlüğü korneal patolojilerde oluşan hücresel değişikliklerin invivo incelenmesine imkan vermektedir.…”

Section: Introductionunclassified

Avellino Korneal Distrofisinde Konfokal Mikroskopi ve Scheimpflug Kamera Bulgularının Karşılaştırılması

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2012

tjo

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ÖzetBu olgu sunumunda Avellino kornea distrofili erişkin bir olguya ait konfokal mikroskopi ve Scheimpflug kamera bulgularının literatür destekli karşılaştırmalı analizi yapılmıştır. Kornea distrofilerinde sıkça kullanılan bir yöntem olan konfokal mikroskopi yanında nadir başvurulan Scheimpflug kamera ile görüntülemenin korneal yayılımın derecesi başta olmak üzere tanı ve takipte faydalı olabilecek ek bilgiler sağlayabileceği görülmüştür.(Turk J Ophthalmol 2012; 42: 489-91) Anah tar Ke li me ler: Avellino korneal distrofi, konfokal mikroskopi, Scheimpflug kamera Sum maryIn this case report, a literature-guided comparative analysis of confocal microscopy and Scheimpflug camera findings of an adult with Avellino corneal dystrophy was performed. It was observed that along with the confocal microscopy, which is a commonly used procedure in corneal dystrophies, the rarely used Scheimpflug camera may provide additional data, especially about the degree of corneal spread, that can be helpful in diagnosis and follow-up. (Turk J Ophthalmol 2012; 42: 489-91) Ge lifl Ta ri hi/Re cei ved: 07.08.2011 Ka bul Ta ri hi/Ac cep ted: 02.03.2012 491 Küçükevcilioğlu ve ark., Avellino Korneal Distrofi Görüntülemesi

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Combined granular lattice dystrophy (Avellino corneal dystrophy)

Cited by 16 publications

References 10 publications

Granular and Lattice Deposits in Corneal Dystrophy Caused by R124C Mutation of TGFBIp

Granular and Lattice Deposits in Corneal Dystrophy Caused by R124C Mutation of TGFBIp

Clinical and Genetic Profile of Avellino Corneal Dystrophy in 2 Families From North India

Avellino Korneal Distrofisinde Konfokal Mikroskopi ve Scheimpflug Kamera Bulgularının Karşılaştırılması

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