Macular corneal dystrophy: A review

S Aggarwal, T Peck, J Golen, ZA Karcioglu - Survey of ophthalmology, 2018 - Elsevier
Macular corneal dystrophy is a corneal stromal dystrophy which leads to progressive vision
loss. Macular corneal dystrophy is an autosomal recessive condition in which there is …

Macular corneal dystrophy: an updated review

S Singh, S Das, C Kannabiran, S Jakati… - Current Eye …, 2021 - Taylor & Francis
ABSTRACT Macular Corneal Dystrophy is an autosomal recessive form of corneal dystrophy
due to a mutation in CHST6 gene, which results in abnormal proteoglycan synthesis. There …

Macular corneal dystrophy and posterior corneal abnormalities

Y Rubinstein, C Weiner, A Einan-Lifshitz, N Chetrit… - Cornea, 2016 - journals.lww.com
Purpose: This study reports the presentation of 2 families with macular corneal dystrophy
(MCD). The aim of this study was to show whether ultrasound biomicroscopy (UBM) can …

[HTML][HTML] A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy

J Zhang, D Wu, Y Li, Y Fan, Y Dai, J Xu - Aging (Albany NY), 2019 - ncbi.nlm.nih.gov
Macular corneal dystrophy (MCD) is an autosomal recessive disease featured by bilateral
progressive stromal clouding and loss of vision, consequently necessitating corneal …

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

AK Nowinska, SJ Teper… - BioMed research …, 2015 - Wiley Online Library
Purpose. To compare anterior eye segment measurements and morphology obtained with
two optical coherence tomography systems (TD OCT, SS OCT) in eyes with corneal …

Evaluation of the genetic variation spectrum related to corneal dystrophy in a large cohort

W Li, N Qu, JK Li, YX Li, DM Han, YX Chen… - Frontiers in Cell and …, 2021 - frontiersin.org
Aims To characterize the genetic landscape and mutation spectrum of patients with corneal
dystrophies (CDs) in a large Han ethnic Chinese Cohort with inherited eye diseases (IEDs) …

CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR …

I Safari, A Baradaran-Rafii… - International …, 2020 - Springer
Purpose To identify CHST6 mutations in Iranians macular corneal dystrophy (MCD) patients
and also to assess distribution of amino acids in the encoded protein that are affected by …

Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy-case report

A Nowińska, E Chlasta-Twardzik, M Dembski… - BMC …, 2021 - Springer
Background Corneal dystrophies are a group of rare, inherited disorders that are usually
bilateral, symmetric, slowly progressive, and not related to environmental or systemic factors …

[HTML][HTML] Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations

SH Park, YJ Ahn, H Chae, Y Kim, MS Kim… - Molecular Vision, 2015 - ncbi.nlm.nih.gov
Methods Genomic DNA was isolated from peripheral blood leukocytes of seven patients
from six unrelated families with MCD (three men and four women). Polymerase chain …

Die aktuelle IC3D-Klassifikation der Hornhautdystrophien–Übersicht und Änderungen der 3. Auflage

T Berger, JS Weiss, W Lisch, B Seitz - Die Ophthalmologie, 2024 - Springer
Zusammenfassung Das Internationale Komitee für die Klassifikation von
Hornhautdystrophien („International Committee on Classification of Corneal Dystrophies …