Dataset Information

Macular corneal dystrophy with isolated peripheral Descemet membrane deposits.

ABSTRACT:

Purpose

Macular Corneal Dystrophy (MCD, MIM #217800) is a category 1 corneal stromal dystrophy as per the current IC3D classification. While characterized by macular stromal deposits, we report a case of MCD type II with isolated bilateral peripheral Decemet membrane opacities, describing the clinical features and results of screening the CHST6 gene and serum sulfated keratan sulfate levels.

Observations

A 68-year-old man with an unremarkable past medical and family history presented with bilateral progressive decrease in vision. Ocular exam revealed bilateral clear corneas with the exception of peripheral, round, gray-white discrete deposits at the level of Descemet membrane and decreased central corneal thickness in both eyes. The morphology of the corneal deposits, decreased corneal thickness and the absence of a family history were consistent with MCD, prompting screening of the CHST6 gene. Sanger sequencing followed by allele specific cloning revealed compound heterozygous CHST6 mutations in trans configuration: c.-26C > A, which created a new upstream open reading frame (uORF'), predicted to attenuate translation efficiency of the downstream main ORF; and c.803A > G (p.(Tyr268Cys)), previously associated with MCD. Serum keratan sulfate was reduced but detectable, consistent with the diagnosis of macular corneal dystrophy type II.

Conclusions

Although macular corneal dystrophy is classified as a corneal stromal dystrophy with endothelial involvement, we report a case of MCD with dystrophic deposits confined to the peripheral Descemet membrane, indicating that MCD may be associated with isolated endothelial involvement.

SUBMITTER: Zhang W

PROVIDER: S-EPMC6881691 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Macular corneal dystrophy with isolated peripheral Descemet membrane deposits.

Zhang Wenlin W Kassels Austin Connor AC Barrington Alice A Khan Shaukat S Tomatsu Shunji S Alkadi Turad T Aldave Anthony A

American journal of ophthalmology case reports 20191113

<h4>Purpose</h4>Macular Corneal Dystrophy (MCD, MIM #217800) is a category 1 corneal stromal dystrophy as per the current IC3D classification. While characterized by macular stromal deposits, we report a case of MCD type II with isolated bilateral peripheral Decemet membrane opacities, describing the clinical features and results of screening the <i>CHST6</i> gene and serum sulfated keratan sulfate levels.<h4>Observations</h4>A 68-year-old man with an unremarkable past medical and family history ...[more]

PMID: 31799478

Similar Datasets

Project description:PurposeTo develop a model to predict corneal improvement after Descemet membrane endothelial keratoplasty (DMEK) for Fuchs endothelial corneal dystrophy (FECD) from Scheimpflug tomography.DesignCross-sectional study.ParticipantsForty-eight eyes (derivation group) and 45 eyes (validation group) with a range of severity of FECD undergoing DMEK.MethodsScheimpflug images were obtained before and after DMEK. Before DMEK, pachymetry map and posterior elevation map patterns were quantified by a special image analysis program measuring tomographic features of edema (loss of regular isopachs, displacement of the thinnest point of the cornea, posterior surface depression). Image-derived novel parameters were combined with instrument-derived parameters, and the relative influences of parameters associated with the change in central corneal thickness (CCT) after DMEK in the derivation group were determined by using a gradient boosting machine learning model. The parameters with highest relative influence were then fit in a linear regression model. The derived model was applied to the validation group. Correlations and agreement were assessed between predicted and observed changes in CCT.Main outcome measuresPredictive power (R 2) and mean difference between predicted and observed change in CCT.ResultsThe gradient boosting machine model identified 4 novel parameters of isopach circularity and eccentricity and 1 instrument-derived parameter (posterior surface radius); preoperative CCT was a poor predictor. In the derivation group, the model strongly predicted the change in CCT after DMEK (R 2 = 0.80; 95% confidence interval [CI], 0.71-0.89) and the mean difference between predicted and observed change was, by definition, 0 μm. When the same 5 parameters were fit to the validation group, the model performed very highly (R 2 = 0.89; 95% CI, 0.84-0.94). When the coefficient estimates from the derivation model were used to predict the change in CCT in the validation group, the predictive power was also high (R 2 = 0.78; 95% CI, 0.68-0.88), and the mean difference was 4 μm (predicted minus observed).ConclusionsScheimpflug tomography maps of corneas with FECD can predict the improvement in CCT after DMEK, independent of preoperative corneal thickness measurement. The model could be applied in clinical practice or for clinical research of FECD.

Project description:BackgroundIn patients with Fuchs endothelial corneal dystrophy (FECD), the most beneficial stage to perform Descemet membrane endothelial keratoplasty (DMEK) remains uncertain. The goal of this study was to compare the surgical outcomes after DMEK in FECD patients with subclinical corneal edema and clinical corneal edema to test the hypothesis of whether performing surgery in subclinical corneal edema stages achieves better surgical outcomes.MethodsIn this prospective, observational, single-institution cohort study, 106 pseudophakic eyes of 85 patients with FECD were divided into two groups depending on the presence of preoperative subclinical and clinical corneal edema. Subclinical corneal edema was diagnosed if more than one of the following criteria was present in Scheimpflug tomography: loss of regular isopachs, displacement of the thinnest point of the cornea, and focal posterior corneal surface depression. Clinical corneal edema was diagnosed with slit-lamp biomicroscopy. The primary outcome was the corrected distance visual acuity (CDVA) 4 months after DMEK. Secondary outcomes were central corneal thickness (CCT), thinnest corneal thickness (TCT), and total corneal density (TCD) in Scheimpflug tomography, as well as endothelial cell loss (ECL) and the re-bubbling rate. The differences between both groups were analyzed using clustered Wilcoxon rank-sum tests or a Chi-squared test.ResultsPostoperative CDVA was significantly better in the group with subclinical edema (0.18 ± 0.12 logMAR) compared to the group with clinical edema (0.24 ± 0.19 logMAR; P = 0.026). Four months after DMEK, TCD was higher in the group with preoperative clinical edema [31.7 ± 8.3 gray scale units (GSU)] compared to the group with subclinical edema (27.8 ± 6.1 GSU; P = 0.005). The postoperative CCT, TCT, ECL, and re-bubbling rates did not differ significantly between both groups (all P > 0.05).ConclusionsDMEK for FECD yielded better visual acuity after 4 months when performed in the early stage of FECD compared to a later stage with clinical edema. This may be attributable to persistent corneal fibrosis after DMEK in eyes with preoperative clinically evident corneal edema, as suggested by higher postoperative corneal density in eyes with clinical edema. Consequently, the findings advocate for the consideration of earlier DMEK in FECD patients to achieve better surgical recovery.

Dataset Information

Macular corneal dystrophy with isolated peripheral Descemet membrane deposits.

Purpose

Observations

Conclusions

Publications

Macular corneal dystrophy with isolated peripheral Descemet membrane deposits.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets