Intraocular Pressure and Corneal Biomechanical Properties in Patients with Myotonic Dystrophy

Rosa, Nicola; Lanza, Michele; Borrelli, Maria; Palladino, Alberto; Gregorio, M.G. Di; Politano, Luisa

doi:10.1016/j.ophtha.2008.09.001

Cited by 25 publications

(8 citation statements)

References 19 publications

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“…This finding is in agreement with several other studies that reported low IOP using GAT (2)(3)(4)(5)(6)12,13) . One study, conducted by Rosa et al (13) , also found lower IOP in dystrophy patients using ORA. No publication using DCT to measure IOP in myotonic dystrophy was found.…”

Section: Discussionsupporting

confidence: 93%

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Intraocular pressure, corneal thickness, and corneal hysteresis in Steinert's myotonic dystrophy

Filho

Prata

Sousa

et al. 2011

Arq. Bras. Oftalmol.

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Purpose: Low intraocular pressure (IOP) measured by Goldmann applanation tonometry (GAT) is one of the ocular manifestations of Steinert's myotonic dystrophy. The goal of this study was to evaluate the corneal-compensated IOP as well as corneal properties (central corneal thickness and corneal hysteresis) in patients with myotonic dystrophy. Methods: A total of 12 eyes of 6 patients with Steinert's myotonic dystrophy (dystrophy group) and 12 eyes of 6 age-, race-, and gender-matched healthy volunteers (control group) were included in the study. GAT, Dynamic Contour Tonometry (DCT-Pascal) and Ocular Response Analyzer (ORA) were used to assess the IOP. Central corneal thickness was obtained by ultrasound pachymetry, and corneal hysteresis was analyzed using the ORA device. In light of the multiplicity of tests performed, the significance level was set at 0.01 rather than 0.05. Results:The mean (standard deviation [SD]) GAT, DCT, and corneal-compensated ORA IOP in the dystrophy group were 5.4 (1.4) mmHg, 9.7 (1.5) mmHg, and 10.1 (2.6) mmHg, respectively. The mean (SD) GAT, DCT, and corneal-compensated ORA IOP in the control group was 12.6 (2.9) mmHg, 15.5 (2.7) mmHg, and 15.8 (3.4) mmHg, respectively. There were significant differences in IOP values between dystrophy and control groups obtained by GAT (mean, -7.2 mmHg; 99% confidence interval [CI], -10.5 to -3.9 mmHg; P<0.001), DCT (mean, -5.9 mmHg; 99% CI, -8.9 to -2.8 mmHg; P<0.001), and corneal-compensated ORA measurements (mean, -5.7 mmHg; 99% CI, -10.4 to -1.0 mmHg; P=0.003). The mean (SD) central corneal thickness was similar in the dystrophy (542 [31] μm) and control (537 [11] μm) groups (P=0.65). The mean (SD) corneal hysteresis in the dystrophy and control groups were 11.2 (1.5) mmHg and 9.7 (1.2) mmHg, respectively (P=0.04). Conclusions: Patients with Steinert's myotonic dystrophy showed lower Goldmann and corneal-compensated IOP in comparison with healthy individuals. Since central corneal thickness and corneal hysteresis did not differ significantly between groups, the lower IOP readings documented in this dystrophy seem not to be related to changes in corneal properties. 12,6 (2,9) mmHg, 15,5 (2,7) mmHg e 15,8 (3,4) mmHg, respectivamente. Houve diferença significativa nos valores da pressão intraocular entre os grupos distrofia e controle obtidas pela TAG (média,2 mmHg; intervalo de confiança (IC) de 99%,9 mmHg; P<0,001), TCD (média,9 mmHg; IC de 99%,8 mmHg; P<0,001) e ORA compensada para córnea (média,7 mmHg; IC de 99%,0 mmHg; P=0,003 Keywords

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Section: Discussionsupporting

confidence: 93%

“…Kesler et al (12) , also found similar CCT in patients with myotonic dystrophy and healthy subjects. In contrast, Rosa et al (13) , found thicker cornea in myotonic dystrophy patients in comparison with healthy individuals, but the difference of 20 μm between the groups was not clinically important.…”

Section: Discussionmentioning

confidence: 79%

Intraocular pressure, corneal thickness, and corneal hysteresis in Steinert's myotonic dystrophy

Filho

Prata

Sousa

et al. 2011

Arq. Bras. Oftalmol.

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“…A few clinical reports have described thicker corneas in patients with DM, though a follow-up study determined no abnormalities in endothelial cell number or appearance. 9,10 Given the somewhat common prevalence of both DM and FECD in the U.S. population, it is possible that the coexistence of the two conditions is merely a coincidence in these reported patients. However, as the polygenetic etiology and complex pathophysiology of FECD have become better understood, more parallels arise between FECD and DM that suggest the possibility of a non-coincidental association between the two diseases.…”

Section: Discussionmentioning

confidence: 90%

Fuchs Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy

Gattey

Zhu

Stagner

et al. 2014

Cornea

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Purpose To report four cases of Fuchs endothelial corneal dystrophy (FECD) in patients with an established diagnosis of myotonic dystrophy (DM) and suggest a mechanism for their association based on the known molecular genetics and potential pathophysiological parallels of DM and FECD. Methods We reviewed all available medical records and pathology slides for the four reported cases from the Department of Ophthalmology at Oregon Health & Science University’s Casey Eye Institute as well as Devers Eye Institute at Legacy Good Samaritan Medical Center in Portland, OR. Results Four patients were found to have myotonic dystrophy as well as bilateral corneal guttae, consistent with the diagnosis of FECD. All of the identified patients were female and between the ages of 34–63, and two of the patients were related (mother and daughter). The corneal specimens from two of the four patients who had undergone corneal transplant were pathologically confirmed to be consistent with FECD. Conclusion To our knowledge, FECD has not been previously reported in association with DM. Because both diseases are somewhat prevalent in the U.S., it is possible that their coexistence is merely a coincidence in these patients. However, recent studies into the pathogenesis of each disease have shown more parallels between FECD and DM, suggesting the possibility of a non-coincidental association. Potential mutual pathogenic mechanisms may involve altered protein expression causing deregulation of ion homeostasis, an unstable intronic trinucleotide repeat expansion, or activation of the unfolded protein response and oxidative stress pathways.

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“…There is no established association between FECD due to TCF4 repeat expansion and neuromuscular signs or symptoms, but prior reports have been mixed regarding corneal findings in patients with DM1. 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.…”

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confidence: 99%

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

Winkler

Milone

Martinez‐Thompson

et al. 2018

Invest. Ophthalmol. Vis. Sci.

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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.

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Intraocular Pressure and Corneal Biomechanical Properties in Patients with Myotonic Dystrophy

Cited by 25 publications

References 19 publications

Intraocular pressure, corneal thickness, and corneal hysteresis in Steinert's myotonic dystrophy

Intraocular pressure, corneal thickness, and corneal hysteresis in Steinert's myotonic dystrophy

Fuchs Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy

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

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