Immunohistochemical Classification of Primary and Recurrent Macular Corneal Dystrophy in Germany: Subclassification of Immunophenotype I A Using a Novel Keratan Sulfate Antibody

Cursiefen, Claus; Hofmann-Rummelt, Carmen; Schlötzer‐Schrehardt, Ursula; Fischer, Dagmar‐Christiane; Haubeck, H.-D.; Küchle, Michael; Naumann, G. O. H.

doi:10.1006/exer.2001.1080

Cited by 20 publications

(13 citation statements)

References 27 publications

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“…As classified by 5D4 anti-sulfated KS staining patterns, this case represents MCD type IA5. As shown in Figure 1, our findings are consistent with a previous report that sulfated KS in select endothelial cells and the anterior aspect of the posterior Descemet’s membrane can be seen in patients with MCD type IA 4. In contrast, multiple subepithelial and stromal deposits and extracellular matrix, but not the keratocytes, stained with 5D4 antibody in case 2.…”

Section: Discussionsupporting

confidence: 90%

“…Mutations in CHST6 gene result in improper sulfation of keratan sulfate (KS), a major glycosaminoglycan of the cornea3. Based on the immuno-reactivity of the macular deposits with a monoclonal antibody (5D4 anti-KS antibody) specific for the sulfated epitopes of KS, MCD has been classified into three sub-types4, 5. In MCD type I, there is no immuno-reactivity seen in the cornea and very little to no reactivity seen in serum.…”

Section: Introductionmentioning

confidence: 99%

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Novel CHST6 Gene Mutations in 2 Unrelated Cases of Macular Corneal Dystrophy

Patel

Harocopos

Chang

et al. 2011

Cornea

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Purpose To investigate possible mutations in the carbohydrate sulfotransferase 6 (CHST6) gene of two unrelated cases of macular corneal dystrophy (MCD) and to report atypical stromal deposits in one of them. Methods Corneal tissues were stained with anti-sulfated keratan sulfate (KS), anti-transforming growth factor beta 1-induced protein (TGFBIp), thioflavin-T, alcian blue, and Masson trichrome. Sequencing was performed to identify potential mutations in the CHST6 gene and the fourth and twelfth exons of the TGFBI gene. Results Alcian blue staining revealed the presence of multiple subepithelial and intra-stromal mucopolysaccharide deposits, confirming the diagnosis of MCD in both cases. Immunofluorescence staining in case 1 revealed the presence of sulfated KS only in the keratocytes and select endothelial cells, consistent with MCD type IA. Preferential expression of sulfated KS was observed in keratocytes and extracellular stromal matrix in case 2, consistent with MCD type II. Atypical sub-epithelial and superficial stromal deposits were observed in case 1, which stained positively with alcian blue, eosin, Masson trichrome and thioflavin-T indicating the presence of hyaline and amyloid materials. CHST6 gene sequencing revealed two heterozygous mutations in case 1 (a p.Arg211Gln and a novel mutation of p.Arg177Gly) and a novel homozygous mutation of p.Pro186Arg in case 2. No mutations were found in exons 4 or 12 of the TGFBI gene in case 1. Conclusions Secondary hyalinosis and amyloidosis occur in a case of MCD type IA with a novel p.Arg177Gly mutation in CHST6. A novel p.Pro186Arg mutation in CHST6 is associated with MCD type II in an African American.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Novel CHST6 Gene Mutations in 2 Unrelated Cases of Macular Corneal Dystrophy

Patel

Harocopos

Chang

et al. 2011

Cornea

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“…3 Seventy-five percent of our DALK failures were associated with surgical risk factors. Also, the endothelial cell counts were not available, and the duration of follow-up was shorter in the DALK group.…”

Section: Discussionmentioning

confidence: 92%

“…1 Although MCD is identified throughout the world, it is most prevalent in India, Saudi Arabia, Iceland, and parts of the United States. 3 Traditionally, penetrating keratoplasty (PK) was the treatment of choice for MCD. Histologically, MCD is characterized by accumulation of glycosaminoglycans in stromal lamellae, within the keratocytes and endothelium, which stain positive with periodic acid-Schiff, alcian blue stain, metachromatic dyes, and possess affinity for colloidal iron.…”

mentioning

confidence: 99%

Clinical Outcomes and Risk Factors for Graft Failure After Deep Anterior Lamellar Keratoplasty and Penetrating Keratoplasty for Macular Corneal Dystrophy

Reddy

Murthy

Vaddavalli

et al. 2015

Cornea

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“…A third subtype, type IA, has been documented in Germany and Saudi Arabia and corresponds to the absence of sulfated KS in the cornea and serum, but its presence in keratocytes. 1,3,4,5 Regardless of the immunotype, the mode of inheritance and the clinical presentation are similar in the two forms. By genetic linkage analysis, the critical region for MCD has been mapped to chromosome 16 (16q22), 6 and the carbohydrate sulfotransferase 6 (CHST6; OMIM 605294) gene has been identified as the defective gene.…”

mentioning

confidence: 99%