To investigate the efficacy and safety of secondary surgical intervention of combined phototherapeutic keratectomy (PTK) with alcohol delamination and peripheral anterior stromal puncture (ASP) for refractory recurrent corneal erosion (RCE). This retrospective comparative study defined refractory RCE as cases persisting for more than 6 months after primary surgical intervention. A total of 115 eyes from 115 patients with refractory RCE, treated either with (n = 92) or without (n = 23) the secondary surgical treatment combining PTK and ASP between January 2021 and January 2023, were included. The Kaplan-Meier survival analysis method was used to determine the intervention's efficacy. The mean age was 34.4 ± 10.8 years, with a predominance of male patients (60%). Over a follow-up period exceeding 1 year, the recurrence rate was markedly lower at 27.2% in the group undergoing secondary surgical treatment compared with 69.6% in those receiving conservative treatment. Kaplan-Meier survival analysis revealed significantly reduced recurrence rates in the surgical group versus the conservative treatment group (log-rank test, P = 0.007). Notably, 96% of recurrences in the surgical cohort occurred within the first 6 months postintervention, with no recurrences observed after 9 months. At the final follow-up, 12% necessitated further surgical procedures 6 months after the secondary intervention. The study reported no significant surgical complications. The secondary surgical approach combining PTK with alcohol delamination and ASP presents a viable and safe treatment alternative for patients with refractory RCE, demonstrating a significant reduction in recurrence rates.

To assess corneal epithelial thickness (ET) changes in affected and fellow eyes of patients with post-traumatic recurrent corneal erosions (RCE) and compare these with healthy age-matched controls. This is a single-centre observational study involving retrospective data collection for patients presenting with traumatic RCE. ET maps were obtained at the follow-up visit once the erosion had healed. Data was recorded for affected (Group 1) and fellow eyes (Group 2) and for healthy age-matched control eyes (Group 3). The primary outcome measure was comparison of "E-Std Dev" values (variation in ET maps between the three groups). Secondary outcome measures were central ET, minimum ET, maximum ET, superior ET, inferior ET and E(min-max) values, and qualitative map assessment, which was performed by analysing the number of zones with thicknesses 60-70 µ and 70-80 µ. Thirty-three patients (66 eyes) and 33 age-matched healthy eyes were included. E-Std Dev values were highest values in Group 1 and lowest in Group 3 (4.65 ± 1.87 µ, 2.92 ± 1.16 µ and 1.94 ± 0.63 µ in Groups 1, 2 and 3 respectively) (p < 0.01). A similar trend was also noted for central ET (p < 0.01), maximum ET (p < 0.01), E(min-max) values (p = 0.03) and qualitative map assessment (p < 0.01). There were no significant inter-group differences for minimum ET (p = 0.05), superior ET {E-S (2-7)} (p = 0.45) and inferior ET {E-I (2-7)} (p = 0.68). Variation and maximum ET were highest in the affected eyes. Even the fellow eyes showed higher values than healthy controls. This may suggest a predisposition of some patients to develop RCE after trauma.

To evaluate the efficacy and safety of trans-epithelial phototherapeutic keratectomy (TE-PTK) as a treatment for recurrent corneal erosion syndrome (RCES) in patients with symptoms refractory to conventional treatments. All patients who received TE-PTK treatment for RCES had failed 3 or more conventional treatments and were reviewed, and if met criteria, approved by healthcare workers of the British Columbia public health authority (Medical Services Plan (MSP). A retrospective chart review and telephone survey were conducted at the Pacific Laser Eye Centre (PLEC). Exclusion criteria were ocular co-morbidities potentially affecting treatment efficacy. This study included 593 eyes of 555 patients (46.2% male; 50.9 ± 14.2 years old) who underwent TE-PTK. The leading identified causes of RCES were trauma (45.7%) and anterior basement membrane dystrophy (44.2%). The most common pre-PTK interventions were ocular lubricants (90.9%), hypertonic solutions (77.9%), and bandage contact lenses (50.9%). Thirty-six eyes had undergone surgical interventions such as stromal puncture, epithelial debridement, or diamond burr polishing. Post-PTK, 78% of patients did not require any subsequent therapies and 20% required ongoing drops. Six patients (1.1%) reported no symptom improvement and required repeat TE-PTK for ongoing RCES symptoms after initial TE-PTK. All 6 eyes were successfully retreated with TE-PTK (average time to retreatment was 11.3 ± 14.9 months). There was no significant difference in best corrected visual acuity pre- vs. post-operatively. The mean post-operative follow-up was 60.5 months (range: 5-127 months). TE-PTK has a good efficacy and safety profile for treatment-resistant RCES. The third-party public health-reviewed nature of this study, the low recurrence rate of RCES, and the low PTK retreatment rate suggest that TE-PTK might be considered for wider use in the management of RCES.

The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature. Peer-reviewed publications from 2014 to 2023 were evaluated. The new information was used to update the anatomic classification and each of the 22 standardized templates including the level of evidence for being a corneal dystrophy [from category 1 (most evidence) to category 4 (least evidence)]. Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 ( COL17A1 mutations, chromosome 10). Signs and symptoms are similar to Franceschetti corneal dystrophy, dystrophia Smolandiensis, and dystrophia Helsinglandica, category 4. Lisch epithelial corneal dystrophy, previously reported as X-linked, has been discovered to be autosomal dominant ( MCOLN1 mutations, chromosome 19). Classic lattice corneal dystrophy (LCD) results from TGFBI R124C mutation. The LCD variant group has over 80 dystrophies with non-R124C TGFBI mutations, amyloid deposition, and often similar phenotypes to classic LCD. We propose a new nomenclature for specific LCD pathogenic variants by appending the mutation using 1-letter amino acid abbreviations to LCD. Pre-Descemet corneal dystrophies include category 1, autosomal dominant, punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) ( PRDX3 mutations, chromosome 10). Typically asymptomatic, it can be distinguished phenotypically from pre-Descemet corneal dystrophy, category 4. We include a corneal dystrophy management table. The IC3D third edition provides a current summary of corneal dystrophy information. The article is available online at https://corneasociety.org/publications/ic3d .

Collagen XVII is most typically associated with human disease when biallelic COL17A1 variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous COL17A1 variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous COL17A1 variants causing dominant non-syndromic AI is not widely recognised. Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequencing) for COL17A1 variants. Patient phenotypes were assessed by clinical examination and analyses of affected teeth. Nineteen unrelated probands with isolated AI (no co-segregating features) had 17 heterozygous, potentially pathogenic COL17A1 variants, including missense, premature termination codons, frameshift and splice site variants in both the endo-domains and the ecto-domains of the protein. The AI phenotype was consistent with enamel of near normal thickness and variable focal hypoplasia with surface irregularities including pitting. These results indicate that COL17A1 variants are a frequent cause of dominantly inherited non-syndromic AI. Comparison of variants implicated in AI and JEB identifies similarities in type and distribution, with five identified in both conditions, one of which may also cause ERED. Increased availability of genetic testing means that more individuals will receive reports of heterozygous COL17A1 variants. We propose that patients with isolated AI or ERED, due to COL17A1 variants, should be considered as potential carriers for JEB and counselled accordingly, reflecting the importance of multidisciplinary care.