Phenotype and genotype analysis in patients with macular corneal dystrophy

Nowińska, Anna; Wylęgała, Edward; Teper, Sławomir; Wróblewska‐Czajka, Ewa; Aragona, Pasquale; Roszkowska, Anna M.; Micali, Antonio; Pisani, Antonina; Puzzolo, Domenico

doi:10.1136/bjophthalmol-2014-305098

Cited by 19 publications

(18 citation statements)

References 29 publications

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“…Regarding CD corneal morphology analysis, our current SS OCT study complements previous findings demonstrated based on TD, SD, and SS OCT [ 19 – 23 , 32 , 33 ].…”

Section: Discussionsupporting

confidence: 84%

“…TBCD, LCD, and FECD caused increased aCCT and mCCT measured with both devices compared to the control group. MCD was characterized by significant corneal thinning, indicated by previous studies [ 23 , 33 ]. The increase in CCT is the main feature of moderate and advanced FECD, but it is possible that association with other anterior eye segment parameters change is rarely examined.…”

Section: Discussionmentioning

confidence: 91%

“…The diagnosis of EBMD and FECD was based on the clinical examination (slit-lamp biomicroscopy and OCT). The diagnosis of all patients with TBCD, LCD1, GCD1, GCD2, and MCD was confirmed with genetic sequencing of TGFBI and CHST6 genes according to the methodology presented in previous author's publications [ 22 , 23 ]. In the CD group eyes with differentiated severity of the disease were included in the analysis.…”

Section: Methodsmentioning

confidence: 90%

“…Currently, there are no data on anterior eye segment measurements with SS OCT in various corneal dystrophies. Previous papers on OCT imaging focused on describing corneal morphology features in different CDs [ 19 – 23 ]. The SS OCT was proved useful in planning of the phototherapeutic keratectomy to treat granular corneal dystrophy by determining the size, depth, and location of deposits based on the case report study [ 24 ].…”

Section: Introductionmentioning

confidence: 99%

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Comparative Study of Anterior Eye Segment Measurements with Spectral Swept-Source and Time-Domain Optical Coherence Tomography in Eyes with Corneal Dystrophies

Nowińska

Teper

Janiszewska

et al. 2015

BioMed Research International

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Purpose. To compare anterior eye segment measurements and morphology obtained with two optical coherence tomography systems (TD OCT, SS OCT) in eyes with corneal dystrophies (CDs). Methods. Fifty healthy volunteers (50 eyes) and 54 patients (96 eyes) diagnosed with CD (epithelial basement membrane dystrophy, EBMD = 12 eyes; Thiel-Behnke CD = 6 eyes; lattice CD TGFBI type = 15 eyes; granular CD type 1 = 7 eyes, granular CD type 2 = 2 eyes; macular CD = 23 eyes; and Fuchs endothelial CD = 31 eyes) were recruited for the study. Automated and manual central corneal thickness (aCCT, mCCT), anterior chamber depth (ACD), and nasal and temporal trabecular iris angle (nTIA, tTIA) were measured and compared with Bland-Altman plots. Results. Good agreement between the TD and SS OCT measurements was demonstrated for mCCT and aCCT in normal individuals and for mCCT in the CDs group. The ACD, nTIA, and tTIA measurements differed significantly in both groups. TBCD, LCD, and FECD caused increased CCT. MCD caused significant corneal thinning. FECD affected all analyzed parameters. Conclusions. Better agreement between SS OCT and TD OCT measurements was demonstrated in normal individuals compared to the CDs group. OCT provides comprehensive corneal deposits analysis and demonstrates the association of CD with CCT, ACD, and TIA measurements.

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“…Regarding CD corneal morphology analysis, our current SS OCT study complements previous findings demonstrated based on TD, SD, and SS OCT [ 19 – 23 , 32 , 33 ].…”

Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 91%

Section: Methodsmentioning

confidence: 90%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Comparative Study of Anterior Eye Segment Measurements with Spectral Swept-Source and Time-Domain Optical Coherence Tomography in Eyes with Corneal Dystrophies

Nowińska

Teper

Janiszewska

et al. 2015

BioMed Research International

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“…[ 1 ] Mutations in corneal carbohydrate sulfotransferase 6 ( CHST6 ) gene are responsible for macular corneal dystrophy (MCD). [ 2 ] The clinical manifestations vary significantly, depending on the anatomical location, and the pattern and severity of the protein deposition. LCD characterized by a network of multiple branching refractive lines or fusiform corneal opacities due to amyloid deposition in the anterior and deep-stromal levels.…”

Section: Introductionmentioning

confidence: 99%

Corneal Higher Order Aberrations in Granular, Lattice and Macular Corneal Dystrophies

et al. 2016

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PurposeTo evaluate the corneal higher-order aberrations (HOAs) in granular, lattice and macular corneal dystrophies.MethodsThis retrospective study includes consecutive patients who were diagnosed as granular corneal dystrophy type2 (GCD2; 121 eyes), lattice corneal dystrophies type 1, type 3A (LCDI; 20 eyes, LCDIIIA; 32 eyes) and macular corneal dystrophies (MCD; 13 eyes), and 18 healthy control eyes. Corneal HOAs were calculated using anterior segment optical coherence tomography, and the correlations between HOAs and visual acuity were analyzed.ResultsHOAs of the total cornea within 4 mm diameter were significantly larger in GCD2 (0.17 ± 0.35 μm), in LCDI (0.33 ± 0.27), LCDIIIA (0.61 ± 1.56) and in MCD (0.23 ± 0.18), compared with healthy controls (0.09 ± 0.02μm, all P < 0.01). HOAs of the total cornea within 6 mm diameter were significantly larger in GCD2 (0.32 ± 0.48), in LCDI (0.60 ± 0.46), LCDIIIA (0.83 ± 2.29) and in MCD (0.44 ± 0.24), compared with healthy controls (0.19 ± 0.06, all P < 0.001). In GCD2, there was no significant correlation between logMAR and HOAs (r = 0.113, P = 0.227). In MCD, LCDI and LCDIIIA, logMAR was positively significantly correlated with HOAs (r = 0.620 and P = 0.028, r = 0.587 and P = 0.007, r = 0.614 and P < 0.001, respectively).ConclusionsIncreased HOAs occur in eyes with corneal dystrophies, especially in eye with LCD and MCD. Larger amount corneal HOAs are associated with poorer visual acuity in patients with LCD and MCD.

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Introduction to Heterogeneity in Statistical Genetics

Gordon

Finch

Kim

2020

Statistics for Biology and Health

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Phenotype and genotype analysis in patients with macular corneal dystrophy

Abstract: Genetic mutation heterogeneity was revealed. No phenotype heterogeneity was revealed among patients with in vivo corneal morphology assessment or histological analysis.

Cited by 19 publications

References 29 publications

Comparative Study of Anterior Eye Segment Measurements with Spectral Swept-Source and Time-Domain Optical Coherence Tomography in Eyes with Corneal Dystrophies

Comparative Study of Anterior Eye Segment Measurements with Spectral Swept-Source and Time-Domain Optical Coherence Tomography in Eyes with Corneal Dystrophies

Corneal Higher Order Aberrations in Granular, Lattice and Macular Corneal Dystrophies

Introduction to Heterogeneity in Statistical Genetics

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