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Stromal corneal dystrophy (possible Schnyder's dystrophy) with peripheral corneal degeneration - diagnostic and therapeutic challenges.

ABSTRACT: Purpose: to highlight the diagnostic and therapeutic challenges in a case with central and peripheral corneal lesions. Methods: We present the preoperative investigations: anterior segment optical coherence tomography and ultrasound biomicroscopy; The excised cornea has been examined histopathologically. Results: Preoperative assessment showed that peripheral lesion was not ectatic; Histopathological examination points to a possible corneal degeneration, with posttraumatic or infectious etiology for the peripheral lesion and gives some reasons to sustain the diagnosis of Schnyder's dystrophy for the central lesion. Conclusions: The association of different corneal lesions may need many investigations to establish the diagnosis and choose the most appropriate therapeutic solution.

SUBMITTER: Zemba M

PROVIDER: S-EPMC6117528 | biostudies-literature | 2018 Apr-Jun

REPOSITORIES: biostudies-literature

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Stromal corneal dystrophy (possible Schnyder's dystrophy) with peripheral corneal degeneration - diagnostic and therapeutic challenges.

Zemba Mihail M Neacsa Raluca R Cucu Bogdan Ion BI

Romanian journal of ophthalmology 20180401 2

Purpose: to highlight the diagnostic and therapeutic challenges in a case with central and peripheral corneal lesions. Methods: We present the preoperative investigations: anterior segment optical coherence tomography and ultrasound biomicroscopy; The excised cornea has been examined histopathologically. Results: Preoperative assessment showed that peripheral lesion was not ectatic; Histopathological examination points to a possible corneal degeneration, with posttraumatic o ...[more]

PMID: 30206563

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Project description:BackgroundMeesmann epithelial corneal dystrophy (MECD) is an inherited eye disorder caused by dominant-negative mutations in either keratins K3 or K12, leading to mechanical fragility of the anterior corneal epithelium, the outermost covering of the eye. Typically, patients suffer from lifelong irritation of the eye and/or photophobia but rarely lose visual acuity; however, some individuals are severely affected, with corneal scarring requiring transplant surgery. At present no treatment exists which addresses the underlying pathology of corneal dystrophy. The aim of this study was to design and assess the efficacy and potency of an allele-specific siRNA approach as a future treatment for MECD.Methods and findingsWe studied a family with a consistently severe phenotype where all affected persons were shown to carry heterozygous missense mutation Leu132Pro in the KRT12 gene. Using a cell-culture assay of keratin filament formation, mutation Leu132Pro was shown to be significantly more disruptive than the most common mutation, Arg135Thr, which is associated with typical, mild MECD. A siRNA sequence walk identified a number of potent inhibitors for the mutant allele, which had no appreciable effect on wild-type K12. The most specific and potent inhibitors were shown to completely block mutant K12 protein expression with negligible effect on wild-type K12 or other closely related keratins. Cells transfected with wild-type K12-EGFP construct show a predominantly normal keratin filament formation with only 5% aggregate formation, while transfection with mutant K12-EGFP construct resulted in a significantly higher percentage of keratin aggregates (41.75%; p<0.001 with 95% confidence limits). The lead siRNA inhibitor significantly rescued the ability to form keratin filaments (74.75% of the cells contained normal keratin filaments; p<0.001 with 95% confidence limits).ConclusionsThis study demonstrates that it is feasible to design highly potent siRNA against mutant alleles with single-nucleotide specificity for future treatment of MECD.

Dataset Information

Stromal corneal dystrophy (possible Schnyder's dystrophy) with peripheral corneal degeneration - diagnostic and therapeutic challenges.

Publications

Stromal corneal dystrophy (possible Schnyder's dystrophy) with peripheral corneal degeneration - diagnostic and therapeutic challenges.

Similar Datasets

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