Corneal Endothelial Dystrophy Associated With Myotonic Dystrophy: A Report of 2 Cases

Heringer, Julia Furtado; Santo, Ruth Miyuki; Barbosa, Leonardo José; Avakian, Amaryllis; Carricondo, Pedro Carlos

doi:10.1097/ico.0000000000001282

Cited by 8 publications

(3 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This could be a correct explanation, but none of our patients older than 40 presented with FECD, and their hypothesis contradicts the paper of Heringer et al 7 that reported two MD patients; one patient was 26 year old.…”

contrasting

confidence: 54%

Fuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients

Bernardo

Rosa

2017

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

contrasting

confidence: 54%

Fuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients

Bernardo

Rosa

2017

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

“…Two initial studies described normal corneal thickness in patients with DM1, 20 , 21 and a follow-up study by Rosa and colleagues 22 found an increased corneal thickness, normal endothelial cell density, and a lower coefficient of variation in a cohort of patients with DM1. Gattey and colleagues 23 described typical clinical and histologic features of FECD in four patients from three families with established DM1, and Heringer and colleagues 24 reported two cases of FECD in patients with DM1 from one family, though genetic analysis of TCF4 and DMPK were not presented in either study. In a preliminary study, we confirmed an association between FECD and DM1 (Winkler N, et al IOVS 2017;58:ARVO E-Abstract 3796).…”

mentioning

confidence: 99%

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1

Winkler

Milone

Martinez‐Thompson

et al. 2018

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

PurposeRNA toxicity from CTG trinucleotide repeat (TNR) expansion within noncoding DNA of the transcription factor 4 (TCF4) and DM1 protein kinase (DMPK) genes has been described in Fuchs' endothelial corneal dystrophy (FECD) and myotonic dystrophy, type 1 (DM1), respectively. We prospectively evaluated DM1 patients and their families for phenotypic FECD and report the analysis of CTG expansion in the TCF4 gene and DMPK expression in corneal endothelium.MethodsFECD grade was evaluated by slit lamp biomicroscopy in 26 participants from 14 families with DM1. CTG TNR length in TCF4 and DMPK was determined by a combination of Gene Scan and Southern blotting of peripheral blood leukocyte DNA.ResultsFECD grade was 2 or higher in 5 (36%) of 14 probands, significantly greater than the general population (5%) (P < 0.001). FECD segregated with DM1; six of eight members of the largest family had both FECD and DM1, while the other two family members had neither disease. All DNA samples from 24 subjects, including four FECD-affected probands, were bi-allelic for nonexpanded TNR length in TCF4 (<40 repeats). Considering a 75% prevalence of TCF4 TNR expansion in FECD, the probability of four FECD probands lacking TNR expansion was 0.4%. Neither severity of DM1 nor DMPK TNR length predicted the presence of FECD in DM1 patients.ConclusionsFECD was common in DM1 families, and the diseases cosegregated. TCF4 TNR expansion was lacking in DM1 families. These findings support a hypothesis that DMPK TNR expansion contributes to clinical FECD.

show abstract

“…In 2014, Gattey et al 1 reported the first association of Fuchs endothelial corneal dystrophy (FECD) to DM1 in a series of four patients. Posteriorly, Heringer et al 4 described another two cases in a family. Recently, Mootha et al 5 and Winkler et al 6 reported a high prevalence of FECD in patients with DM1 (46% and 36%, respectively).…”

Section: Introductionmentioning

confidence: 96%

Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert’s disease: A case of triple dystrophy

Gargallo-Benedicto

Pérez-Torregrosa

Clemente-Tomás

et al. 2019

European Journal of Ophthalmology

View full text Add to dashboard Cite

Introduction: A case of dual corneal involvement due to Fuchs endothelial corneal dystrophy and epithelial basement membrane corneal dystrophy in a patient with Steinert’s myotonic dystrophy type 1 is described, and a literature review on the triple association is made. Case description: A 52-year-old male diagnosed with myotonic dystrophy type 1 presented due to progressive bilateral vision loss during the past year. A full ophthalmological evaluation was made, with biomicroscopy, funduscopy, anterior segment optical coherence tomography, and endothelial cell count using specular microscopy. Exploration revealed bilateral superior palpebral ptosis, visual acuity 0.5 in the right eye and 0.3 in the left eye, and with an intraocular pressure of 11 and 10 mmHg, respectively. Biomicroscopy revealed map-dot-fingerprint lesions characteristic of epithelial basement membrane corneal dystrophy in both eyes, as well as abundant endothelial guttae due to Fuchs endothelial corneal dystrophy (stage II) and bilateral nuclear and posterior subcapsular cataracts. Specular microscopy in turn showed cell loss and a destructured endothelial map. Finally, anterior segment optical coherence tomography revealed the accumulation of epithelial basement membrane and hyperreflective endothelial excrescences corresponding to guttae. Conclusion: The association of Fuchs endothelial corneal dystrophy with myotonic dystrophy has been described and explained by a common genetic basis in the expansion of a CTG trinucleotide repeat, though this is the first reported case of the triple association of Fuchs endothelial corneal dystrophy, epithelial basement membrane corneal dystrophy, and myotonic dystrophy type 1. New mutations or still unknown genetic alterations could possibly explain the triple association reported in our case.

show abstract

Corneal Endothelial Dystrophy Associated With Myotonic Dystrophy: A Report of 2 Cases

Cited by 8 publications

References 5 publications

Fuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients

Fuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1

Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert’s disease: A case of triple dystrophy

Contact Info

Product

Resources

About