Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations. Recently, the examination techniques of ophthalmology and gene sequencing advance greatly, which do benefit to our understanding of these diseases. However, many aspects remain still unknown. And due to the poor knowledge of these diseases, the results of the treatments are not satisfoctory. The purpose of this review was to summarize the clinical, histological and genetic characteristics of different types of corneal dystrophies.
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http://dx.doi.org/10.18240/ijo.2016.06.20 | DOI Listing |
BMC Genomics
January 2025
Department of Ophthalmology & Vision Science, School of Medicine, University of California Davis, Sacramento, CA, USA.
Purpose: Corneal dysmorphologies (CDs) are typically classified as either regressive degenerative corneal dystrophies (CDtrs) or defective growth and differentiation-driven corneal dysplasias (CDyps). Both eye disorders have multifactorial etiologies. While previous work has elucidated many aspects of CDs, such as presenting symptoms, epidemiology, and pathophysiology, the genetic mechanisms remain incompletely understood.
View Article and Find Full Text PDFSci Rep
January 2025
Eye Center, Medical Center, Faculty of Medicine, University of Freiburg, Kilianstraße 5, 79106, Freiburg, Germany.
Fuchs Endothelial Corneal Dystrophy (FECD) is the most frequent indication for corneal transplantation, with Descemet membrane endothelial keratoplasty (DMEK), Descemet stripping automated endothelial keratoplasty (DSAEK), and penetrating keratoplasty (PK) being viable options. This retrospective study compared 10-year outcomes of these techniques in a large cohort of 2956 first-time keratoplasty eyes treated for FECD at a high-volume corneal transplant center in Germany. While DMEK and DSAEK provided faster visual recovery (median time to BSCVA ≥ 6/12 Snellen: DMEK 7.
View Article and Find Full Text PDFSci Rep
December 2024
Structural Biophysics Research Group, School of Optometry & Vision Sciences, Cardiff University, Cardiff, Wales, UK.
Fuchs' endothelial corneal dystrophy (FECD) is a common sight-threatening condition characterised by pathological changes in the posterior cornea. Here we report observations by light, transmission and volume scanning electron microscopy on changes in the endothelium and matrix associated with the characteristic deformations of Descemet's membrane, termed guttae. Specimens were archived full-thickness human corneal tissue, removed during graft surgery, that had been fixed, stained and embedded by conventional processing methods for examination by transmission electron microscopy more than 40-years previously.
View Article and Find Full Text PDFIndian J Ophthalmol
January 2025
Department of Ophthalmology, Université Paris Cité, Cochin Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Purpose: This study aims to evaluate the efficacy of various tomographic indices, both established and novel, in predicting endothelial decompensation leading to either spontaneous corneal transplantation or transplantation following cataract surgery in patients with Fuchs endothelial corneal dystrophy (FECD).
Methods: In this cross-sectional, retrospective study, we reviewed the files of 93 eyes from 54 FECD patients undergoing regular follow-up. We recorded clinical metrics such as morning visual disturbance (MVD) and corrected distance visual acuity.
BMJ Case Rep
December 2024
Cornea, LVPEI, Bhubaneswar, Odisha, India.
A female patient in her middle childhood who was initially referred to us with congenital glaucoma was later diagnosed with congenital hereditary endothelial dystrophy. Due to progressive corneal thickening and haze, Descemet's stripping endothelial keratoplasty (DSEK) was performed consecutively in both her eyes. Postoperative follow-ups included evaluations of corneal thickness, intraocular pressure and disc assessment.
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