Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations

Purpose: To report a case of bilateral and repetitive corneal perforations after corneal cross-linking (CXL) for keratoconus in a woman harboring potentially pathogenic variants in the ZNF469 gene and to characterize the keratoconus phenotype in this woman and her daughter who shared the same ZNF469 mutations. Methods: Clinical characterization of the proband and her daughter followed by sequencing of the genes associated with brittle cornea syndrome, ZNF469 and PRDM5, in both individuals. Results: An Ashkenazi Jewish woman in her sixth decade presented with diffuse corneal thinning and progressive steepening consistent with keratoconus. After CXL, epithelium-off in the first eye and epithelium-on in the second, she developed spontaneous corneal perforations in each eye. Her daughter in her fourth decade demonstrated a similar pattern of diffuse corneal thinning and progressive corneal steepening but did not undergo CXL and did not develop corneal perforation. Screening of the ZNF469 and PRDM5 genes revealed 3 missense ZNF469 variants (c.2035G>A, c.10244G>C, and c.11119A>G) in cis arrangement on 1 allele of ZNF469 in both proband and her daughter. Although the 3 variants share low (
Source: Cornea - Category: Opthalmology Tags: Case Report Source Type: research

Related Links:

Condition:   Keratoconus Interventions:   Procedure: Drop application in the inferior fornix;   Procedure: Drop application on the cornea Sponsor:   Luzerner Kantonsspital Not yet recruiting
Source: - Category: Research Source Type: clinical trials
ConclusionChoroidal thickness was found to be increased in keratoconus patients. Choroidal thickness could potentially become a new clinical marker for disease activity in keratoconus patients
Source: International Ophthalmology - Category: Opthalmology Source Type: research
We read with great interest the article “Effect of keratoconus severity on clinical outcomes after deep anterior lamellar keratoplasty” by Feizi and associates.1 The authors have brought out clarity on an essential aspect of keratoplasty in keratoconus, that is, the impact of clinical severity on the outcomes of deep anterior lamellar keratoplasty (DALK). However, there are a few concerns that we would like to highlight.
Source: American Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Correspondence Source Type: research
ConclusionThe pathogenesis and pathophysiology of KC remain enigmatic. Emerging evidence has improved our understanding of the molecular characteristics of KC and could further improve the success rate of CXL therapies.
Source: Advances in Therapy - Category: Drugs & Pharmacology Source Type: research
Conclusions: Posterior elevation measured at the thinnest point with a BFTEFE is the best-performing parameter and, therefore, is recommended to discriminate between normal and KC patients within a myopic population. PMID: 31396409 [PubMed]
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research
Authors: Abdullah OA, El Gazzar WB, Salem TI, Al-Kamil EA Abstract Introduction: Single nucleotide polymorphisms (SNPs) in genes for certain structural components may be implicated in the pathogenesis of keratoconus. We hypothesised links between SNPs in genes coding for collagen, matrix metalloproteinase 9 (MMP9) and tissue inhibitor of matrix metalloproteinase (TIMP) and keratoconus. Furthermore, we hypothesised links between MMP-9 and TIMP-1 SNPs and their tear level in keratoconus patients. Materials and methods: We genotyped 200 keratoconus and 100 control subjects by allele specific PCR, and quantified MMP-9 ...
Source: British Journal of Biomedical Science - Category: Laboratory Medicine Tags: Br J Biomed Sci Source Type: research
Glaukos has been open about a plan to go beyond being a “just” a medical device company. During a presentation to investors at the 37th annual J.P. Morgan Healthcare Conference, San Clemente, CA-based Glaukos’ CEO Thomas Burns said the company was transforming into a “hybrid surgical/pharmaceutical/medical device” firm. Glaukos is the frontrunner in Micro-invasive glaucoma surgery (MIGS) and was the first to have an approved device in the space. MD+DI named Glaukos’ plan to become a hybrid company as one ...
Source: MDDI - Category: Medical Devices Authors: Tags: Implants Business Source Type: news
Conclusions: The iD2 system provides consistent measures of keratometry and ocular aberrometry in eyes with mild to moderate keratoconus. Keratometric data obtained with this system in these eyes cannot be considered as interchangeable with data provided by intraocular lens-Master 500 and SIR.
Source: Cornea - Category: Opthalmology Tags: Clinical Science Source Type: research
This study aimed to predict the best-corrected visual acuity (BCVA) based on swept-source optical coherence tomography (SS-OCT) parameters in eyes with keratoconus. Methods: We retrospectively reviewed 135 eyes of 135 patients with keratoconus (mean age: 31.9 ± 12.4 years). The average keratometry value and BCVA (logarithm of the minimal angle of resolution [Snellen]) were 48.68 ± 5.44 diopter and 0.20 ± 0.36 (20/25), respectively. Eleven parameters were calculated using SS-OCT. Apart from the corneal height and elevation, all the other parameters were calculated from both anterior and posterior cor...
Source: Cornea - Category: Opthalmology Tags: Clinical Science Source Type: research
Condition:   Progressive Keratoconus Intervention:   Procedure: corneal cross-linking Sponsor:   Kasr El Aini Hospital Recruiting
Source: - Category: Research Source Type: clinical trials
More News: Genetics | Keratoconus | Opthalmology