Gelatinous drop-like corneal dystrophy: a review

Kaza, Hrishikesh; Barik, Manas Ranjan; Reddy, Mamatha M.; Mittal, Ruchi; Das, Sujata

doi:10.1136/bjophthalmol-2016-309555

Cited by 23 publications

(21 citation statements)

References 44 publications

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“…Gelatinous Drop-Like Corneal Dystrophy -2 Clinical Cases theliale korneale Einlagerungen. Diese sind unter direkter Beleuchtung opak, bei Retroillumination durchsichtig [3]. Die Wucherungen können bandförmig aggregieren ("band keratopathy type") oder bei multiplen, tropfenförmigen Läsionen ein charakteristisches maulbeerartiges Erscheinungsbild zeigen ("mulberry type").…”

Section: Gelatinöse Hornhautdystrophie -2 Verlaufsdarstellungenunclassified

“…Lange wurde eine Herkunft des Amyloids aus kornealen Basalzellen vermutet [12,13]. Durch den immunhistochemischen Nachweis von Lactoferrin in den Läsionen [5] bei fehlender Assoziation mit Mutationen im Lactoferrin-Gen [14] geht der Literaturkonsens inzwischen von einer Herkunft aus dem Tränenfilm aus [3]. Passend zu dieser Hypothese sind die gestörte epitheliale Barrierefunktion, die klinisch als erhöhter Fluorescein-Uptake imponiert, [15] sowie die elektronenmikroskopischen Befunde.…”

Section: Diskussionunclassified

“…Essenziell für das Verständnis der Erkrankung war die Identifikation von kausalen Mutationen in dem kalziumassoziierten Signaltransducer TACSTD2 (auch: TROP2, M1S1), lokalisiert auf dem kurzen Arm von Chromosom 1 [3]. Die häufigste Mutation, Q118X, führt zu einem vorzeitigen Abbruch der Translation und wird in 83-92 % der mutierten Allele in Japan vermutet.…”

Section: Diskussionunclassified

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Gelatinous Drop-Like Corneal Dystrophy – 2 Clinical Cases

Küchlin

Maier

Reinhard

et al. 2020

Klin Monbl Augenheilkd

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Gelatinous drop-like corneal dystrophy is a very rare autosomal recessive disease classified as an epithelial and subepithelial corneal dystrophy. Patients typically present under the age of 20 with drop-like corneal lesions showing high corneal fluorescein uptake. Their disease course is typically protracted and prone to frequent relapses. The condition is caused by a dysfunction of the epithelial barrier, leading to protein deposits most likely originating from tear fluid. Histology typically shows subepithelial amyloid deposits with corresponding defects of Bowmanʼs layer and epithelial atrophy. Where topical lubricating and anti-inflammatory therapy proves insufficient, penetrating allogenic limbokeratoplasty can be considered in a curative approach. In this report, we present disease courses of 2 unrelated patients. Current findings on pathogenesis are discussed.

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Section: Gelatinöse Hornhautdystrophie -2 Verlaufsdarstellungenunclassified

Section: Diskussionunclassified

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Gelatinous Drop-Like Corneal Dystrophy – 2 Clinical Cases

Küchlin

Maier

Reinhard

et al. 2020

Klin Monbl Augenheilkd

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“…Gelatinous drop-like corneal dystrophy (GDLD; OMIM: 204870), which was first reported in 1914 by Nakaizumi, 1 is a rare autosomal recessive inheritable corneal dystrophy. 2,3 Clinical manifestations of GDLD include visual impairment, photophobia, irritation, redness, and tearing, which occur from as early as the first decade of life. 2,3 Histologically, amyloid depositions are observed at the subepithelial region of the cornea.…”

Section: Introductionmentioning

confidence: 99%

“…2,3 Clinical manifestations of GDLD include visual impairment, photophobia, irritation, redness, and tearing, which occur from as early as the first decade of life. 2,3 Histologically, amyloid depositions are observed at the subepithelial region of the cornea. 4 These amyloid depositions gradually increase in number and size, severely impairing vision.…”

Section: Introductionmentioning

confidence: 99%

A New in Vitro Model of GDLD by Knocking OutTACSTD2and Its Paralogous GeneEpCAMin Human Corneal Epithelial Cells

Kai

Kawasaki

et al. 2018

Trans. Vis. Sci. Tech.

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PurposeGelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive corneal dystrophy that causes severe vision loss. Because of its poor prognosis, there is a demand for novel treatments for GDLD. Here, we establish a new in vitro disease model of GDLD based on immortalized human corneal epithelial (HCE-T) cells.MethodsBy using transcription activator-like effector nuclease plasmids, tumor-associated calcium signal transducer 2 (TACSTD2) and its paralogous gene, epithelial cell adhesion molecule (EpCAM), were knocked out in HCE-T cells. Fluorescence-activated cell sorting was performed to obtain cells in which both TACSTD2 and EpCAM were knocked out (DKO cells). In DKO cells, the expression levels and subcellular localizations of claudin (CLDN) 1, 4, and 7, and ZO-1 were investigated, along with epithelial barrier function. By using DKO cells, the feasibility of gene therapy for GDLD was also investigated.ResultsDKO cells exhibited decreased expression and aberrant subcellular localization of CLDN1 and CLDN7 proteins, as well as decreased epithelial barrier function. Transduction of the TACSTD2 gene into DKO cells nearly normalized expression levels and subcellular localization of CLDN1 and CLDN7 proteins, while significantly increasing epithelial barrier function.ConclusionsWe established an in vitro disease model of GDLD by knocking out TACSTD2 and its paralogous gene, EpCAM, in HCE-T cells. This cell line accurately reflected pathological aspects of GDLD.Translational RelevanceWe expect that the cell line will be useful to elucidate the pathogenesis of GDLD and develop novel treatments for GDLD.

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Cornea and Sclera

Yanoff¹,

Sassani²

2020

Ocular Pathology

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Gelatinous drop-like corneal dystrophy: a review

Cited by 23 publications

References 44 publications

Gelatinous Drop-Like Corneal Dystrophy – 2 Clinical Cases

Gelatinous Drop-Like Corneal Dystrophy – 2 Clinical Cases

A New in Vitro Model of GDLD by Knocking OutTACSTD2and Its Paralogous GeneEpCAMin Human Corneal Epithelial Cells

Cornea and Sclera

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