Purpose: To report corneal decompensation in 3 patients with recessive cornea plana.
Methods: Retrospective case series.
Results: An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencing revealed homozygosity for a novel splice (c.995-2A>G) in the adult and 2 previously reported KERA mutations in the 2 children (c.1033delC[p.C343AFsX] and c.945C > T[p.R313X]).
Conclusions: The phenotype of recessive cornea plana can rarely include corneal decompensation. There are likely modifying factors that can lead to endothelial cell dysfunction in the setting of homozygous KERA mutation.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/13816810902937084 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Long-term outcomes of scleral fixated black diaphragm intraocular lens in eyes with combined aphakia and aniridia.
Eur J Ophthalmol
January 2025
Dept of Vitreoretinal Diseases, Sankara Nethralaya, Chennai, India.
Article Synopsis
- The study evaluated the long-term outcomes of scleral fixation of aniridic black diaphragm intraocular lenses (BDIOL) in 38 eyes affected by aniridia and aphakia due to trauma or congenital conditions.
- After an average follow-up of 28 months, there was a significant improvement in visual acuity, and patients reported reduced glare and photophobia, though some experienced complications like elevated intraocular pressure and corneal decompensation.
- The findings suggest that scleral fixation of BDIOL is an effective solution for patients lacking capsular support, providing good vision quality with a low rate of complications, regardless of prior surgical history.
Pregnancy with Wilson's Disease: A Case Series.
Mymensingh Med J
January 2025
Dr Mousumi Saha, Assistant Professor, Fetomaternal Medicine Subspeciality (FCPS) Course Student, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh; E-mail:
Wilson's disease is an autosomal recessive disorder that affects copper transport due to deficiency of ceruloplasmin and causes deposition of copper mainly in the liver, brain and cornea. It causes hepatic and/or neuropsychiatric manifestations. This copper deposition causes cirrhosis of the liver, encephalopathy and liver failure.
View Article and Find Full Text PDFPredicting corneal decompensation in Fuchs endothelial corneal dystrophy with Scheimpflug tomography and clinical parameters.
Indian 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.
Introduction: The aim of our study was to assess the outcome of Gore-Tex sutures in minimally invasive scleral fixation of subluxated posterior chamber intraocular lenses (PCIOLs) and to demonstrate a method for validating the lens position.
Methods: Retrospective study of patients who underwent lasso in-the-bag scleral fixation of a subluxated PCIOL using the snare technique with Gore-Tex suture from 2019 to 2021 in a single tertiary medical center. Functional outcome was analyzed by clinical assessment, and anatomical outcome, by ultrasound biomicroscopy (UBM).
Evaluating the safety and effectiveness of the sub-400 corneal cross-linking protocol: initial clinical and morphological findings.
Int Ophthalmol
December 2024
Department of Ophthalmology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Turkey.
Purpose: To assess the safety and the efficacy of the "Sub-400 corneal cross-linking (CXL) protocol" for progressive keratoconus (KC) in ultrathin corneas.
Methods: The study included thirty four patients with progressive KC, who underwent CXL using the "Sub-400" protocol due to intraoperative thinnest corneal pachymetry ranging from 295 to 398 μm after epithelial removal. After the epithelium was removed, the following ultraviolet A irradiation was applied at a fluence of 3 mW/cm and the duration was adjusted based on the specific corneal stromal thickness.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!