Reis-Bücklers corneal dystrophy (RBCD; Mendelian Inheritance in Man 602082) and Thiel-Behnke corneal dystrophy (TBCD; Mendelian Inheritance in Man 608470) are clinically similar corneal dystrophies affecting Bowman's layer, caused by the TGFBI variants p.(Arg124Leu) and p.(Arg555Gln), respectively. Yet their distinct clinical courses complicate therapeutic decisions. This study aimed to compare the clinical course and surgical outcomes of genetically confirmed RBCD and TBCD. Medical records from 2016 to 2024 were reviewed for age at first surgical intervention, surgical procedure type, and time to clinically significant recurrence (SR). TGFBI genotyping was performed, and phenotypic features were documented using slit-lamp biomicroscopy and anterior segment optical coherence tomography. We retrospectively analyzed clinical data of 2 large French families with 24 patients, 8 being genotyped with either the p.(Arg124Leu) or the p.(Arg555Gln) variants. Main Outcome Measures were the age at first phototherapeutic keratectomy (PTK), recurrence interval after surgery, and visual acuity recovery after PTK. Patients with the p.(Arg124Leu) variant underwent their first surgical procedure at a younger age (mean: 18.43 ± 4.47 years) than those with the p.(Arg555Gln) variant (mean: 28.8 ± 4.16 years; P <0.001). Furthermore, the interval to SR after PTK was shorter in the p.(Arg124Leu) group (48.3 ± 10.4 months) than in the p.(Arg555Gln) group (121.2 ± 20.4 months; P <0.001). Our findings further support that the p.(Arg124Leu) variant is associated with an earlier onset and a more aggressive clinical course than the p.(Arg555Gln) variant. Genetic testing is key to precise differential diagnosis of these CDs and provides clinical prognostication to guide the therapeutic options.

To report the use of anterior segment optical coherence tomography (AS-OCT) for superficial keratectomy (SK) in anterior corneal opacity. The characteristics of 43 eyes (39 patients) with various lesions responsible for anterior corneal opacity were included in this retrospective non-comparative study. AS-OCT was performed on all eyes before surgery. The thickness of corneal opacity and the underlying healthy stroma were measured. SK was performed on each individual. Four types of anterior corneal opacity were evaluated, including corneal degeneration (26/43), Reis-Bücklers corneal dystrophy (8/43), alkali burn (1/43) and corneal tumors (8/43). Based on AS-OCT images, all eyes showed abnormal hyper-reflective signals in the superficial cornea to less than one-third of the normal corneal thickness in the deepest corneal opacity. All 43 eyes underwent an SK procedure. In addition, 1 eye with alkali burns and 7 eyes with corneal tumors were combined with amniotic membrane transplantation. All eyes restored transparency without significant complications. AS-OCT is a valuable method for objective preoperative and noninvasive assessments of anterior corneal opacities and is useful for guiding SK.

To evaluate the recurrence characteristics on optical coherence tomography and clinical outcomes after phototherapeutic keratectomy (PTK) or penetrating keratoplasty (PKP) in patients with Reis-Bücklers corneal dystrophy (RBCD). Retrospective interventional case series. Seventeen patients with RBCD (31 eyes, including 6 surgery-naïve eyes and 25 surgical eyes) received 44 surgical interventions from 1996 through 2022. PTK or PKP was performed as the initial surgical procedure. Significant recurrence was determined when best spectacle-corrected visual acuity decreased at least 2 lines with increased opacity in the superficial cornea. Repeated PTK or PTK on the corneal graft (CG-PTK) was considered if patients could not endure poor vision due to significant recurrence. Recurrence depth and annual increase in thickness of the central cornea and subepithelial deposits were assessed by anterior segment optical coherence tomography. The mean follow-up time was 12.8 ± 8.5 years (range, 2.0-25.5 years). The mean logMAR best spectacle-corrected visual acuity improved from 1.24 ± 0.48 preoperatively to 0.27 ± 0.09 postoperatively in the initial PTK group (13 eyes, P < .001), from 1.84 ± 0.69 to 0.40 ± 0.13 in the PKP group (12 eyes, P < .001), from 1.04 ± 0.46 to 0.30 ± 0.07 in the repeated PTK group (12 times in 7 eyes, P < .001), and from 1.29 ± 0.43 to 0.39 ± 0.11 in the CG-PTK group (7 times in 5 eyes, P = .001). The median significant recurrence time was 27 months (95% confidence interval 23.9-30.1), 96 months (84.1-107.9), 31 months (28.8-33.1), and 24 months (19.8-28.2), respectively (P < .001). The depth of superficial deposits located between the epithelium and the anterior stroma was approximately 115 µm (85-159 µm). The annual thickening of subepithelial deposits was 14 ± 2 µm after initial PTK, 7 ± 3 µm after PKP, 14 ± 3 µm after repeated PTK, and 30 ± 11 µm after CG-PTK, compared to 4 ± 2 µm in surgery-naïve eyes (P = .002, .515, .002, <.001). The thickness of the central cornea increased by 15 ± 2 µm, 7 ± 2 µm, 15 ± 3 µm, and 31 ± 10 µm per year in the 4 surgery groups, respectively, compared to 5 ± 2 µm in surgery-naïve eyes (P = .001, .469, .001, <.001). Better visual acuity can be achieved after PTK than PKP for treatment of RBCD. The annual thickening of subepithelial deposits may approximate an increase in central corneal thickness. The superficial distribution of subepithelial deposits makes it feasible to perform repeated PTK, even on the corneal allograft, for recurrent RBCD.

The aim of this study was to report the clinical profile and patterns of recurrence after femtosecond laser-assisted anterior lamellar keratoplasty (FALK) in Reis-Bucklers corneal dystrophy. This is a case series of 5 eyes of 4 patients with Reis-Bucklers corneal dystrophy. Clinical images of recurrence were correlated with the high-resolution optical coherence tomography. Histopathologic examination of excised corneal samples was performed when possible. The median time to recurrence was 2 (1-5) years after FALK. Of the 5 eyes, 1 eye had primary FALK, whereas 4 eyes had secondary interventions, which included previous phototherapeutic keratectomy (once in 1 eye and twice in 2 eyes), and previous penetrating keratoplasty, followed by phototherapeutic keratectomy (1 eye). Recurrence was noted at the level of the subepithelium. In addition, 1 eye showed interface deposits along with epithelial downgrowth at the graft-host bed. The 2 distinct patterns of recurrence noted were at the subepithelial region and the interface. The clinical patterns of recurrence favor an epithelial origin of recurrent deposits.

Phototherapeutic keratectomy (PTK) plays an important role in the management of Reis-Bucklers' corneal dystrophy. The usage of PTK for the treatment of anterior corneal dystrophies is limited by the depth of ablation. This case shows the usage of high ablation depth PTK as one of the management strategies to visually rehabilitate a patient of advanced Reis-Bucklers' corneal dystrophy. We present a case of 32-year-old lady who was diagnosed with Reis-Bucklers' dystrophy in both eyes. The patient had advanced form of the disease and history of recurrent corneal erosions. For visual rehabilitation and symptomatic relief, phototherapeutic keratectomy was planned in both eyes. In view of the advanced nature of the disease, the ablation depth had to be high to get an acceptably clear central cornea. PTK with high ablation depth is possible in advanced Reis-Bucklers' corneal dystrophy unlike other types of anterior corneal dystrophies.