Purpose: To analyze the long-term anatomical survival, functional survival, and complications of Boston type 1 keratoprosthesis (KPro) in the eyes with congenital aniridia-associated keratopathy (AAK).Methods: A retrospective review of 12 eyes with congenital aniridia that underwent a Boston type 1 KPro surgery was conducted. A Kaplan–Meier analysis was performed. Anatomical and functional success criteria were KPro retention and a best corrected visual acuity (BCVA) ≤1.3 LogMAR (≥0.05 decimal) at the end of a follow-up period. Postoperative complications were recorded.Results: The mean preoperative BCVA was 2.1 ± 0.9 (range: 3.8–1) LogMAR, and glaucoma was a comorbidity in all the cases. Five years after the surgery, the overall retention rate was 10/12 (83.3%), and 50% had functional success. Only three (25%) of the 12 cases did not achieve a BCVA ≤1.3 LogMAR. The cumulative probability of anatomical success was 92, 79, and 79% after 1, 5, and 10 years, respectively. The cumulative probability of functional success was 57 and 46% after 1 and 5 years, respectively. The mean anatomical and functional survival time was 10 ± 1.3 (95% IC = 7.5–12.3 years) and 3.8 ± 0.9 years (95% IC = 1.8–5.8 years), respectively. The most common postoperative complication was retroprosthetic membrane (RPM) formation in 8/16 cases (66%). The mean number of complications per case was 2.4 ± 1.8 (0–6).Conclusions: The Boston type 1 KPro is a viable option for patients with AAK with good anatomical and functional long-term results. Glaucoma is an important preoperative condition that affects functional results. Retroprosthetic membrane formation seems to have a higher incidence in this condition.

Background/Objectives: to report a novel KRT3 Meesmann corneal dystrophy (MECD) mutation and its clinical findings in a Spanish family, thus completing the international database. Case series study. Methods: Two generations of three family members were studied. The clinical ophthalmologic evaluation was made including best-corrected visual acuity (BCVA), biomicroscopy with and without fluorescein, fundoscopy, Schirmer test I, non-invasive break-up time (NiBUT), and esthesiometry. In vivo confocal microscopy (IVCM), anterior segment optical coherence tomography (AS-OCT) with an epithelial map, and genetic analysis were also performed. Results: A novel heterozygous mutation in the KRT3 gene c.1527G>T (p. Glu509Asp) was identified. Biomicroscopy revealed bilateral multiple corneal intraepithelial cysts. IVCM showed numerous and relatively small microcysts (12–32 µm), hyperreflective materials, subepithelial nerve and Bowman’s layer alterations. AS-OCT scan revealed diffuse hyperreflectivity and the epithelial map displayed thickening of the corneal epithelium in the interpalpebral zone (proband: 52–68 µm and father’s proband: 55–71 µm) with a slightly thinned cornea. Conclusions: We identified a new mutation in the KRT3 gene–c.1527G>T (p. Glu509Asp) in a Spanish family with MECD. A comprehensive characterization of the clinical signs, using different techniques, especially an epithelial map, could be useful to diagnose and monitor epithelial changes by quantitative measures. Epithelial map changes provide better understanding of MECD differential epithelial behavior and its progression changes. Larger studies will be necessary to better understand these specific patterns and clinically evaluate new therapies.

This study describes the clinical and genetic features of Meesmann epithelial corneal dystrophy (MECD) in two unrelated families and reports new genotype–phenotype associations. Ten patients from a Lebanese family (n = 4) (Family 1) and a Spanish family (n = 6) (Family 2) underwent ophthalmologic evaluation, in vivo confocal microscopy (IVCM), anterior segment optical coherence tomography (AS-OCT) with epithelial thickness mapping (ET-map), and targeted next-generation sequencing (NGS) using a custom-designed 133-gene panel associated with anterior segment dystrophies. In Family 1, a novel homozygous KRT12 c.1181T>C (p.Leu394Pro) variant was identified in the symptomatic proband and his clinically asymptomatic brother, while both parents, who were first cousins, were heterozygous for this nucleotide variant. The proband also carried the heterozygous KRT3 c.250C>T (p.Arg84Trp) variant, which has been previously reported but, to our knowledge, has not been described in co-occurrence until now. In addition, the proband showed a complex phenotype with signs of MECD and epithelial basal membrane alterations consistent with epithelial basement membrane dystrophy (EBMD). In Family 2, four affected members carried the KRT3 c.1492G>A (p.Glu498Lys) variant in heterozygosity, which has been previously described. The elderly members affected showed typical signs of MECD and EBMD. To our knowledge, these concomitant alterations have not been previously described with genetical confirmation. In conclusion, this study provides the first evidence that the co-occurrence of variants in two Meesmann corneal dystrophy-associated genes (KRT3 and KRT12) can jointly account for the disease phenotype. We also highlight the association of MECD with EBMD in both families. Characterization using IVCM and AS-OCT ET-Map provides a deeper understanding of the morphological changes and phenotypic variability in MECD, confirming the utility of this multimodal imaging approach for diagnosis and management.