Topical Dorzolamide as Adjunctive Treatment With Intravitreal Bevacizumab in Bilateral Diabetic Macular Edema.

BACKGROUND:  Intravitreal injection of anti-vascular endothelial growth factor (VEGF) agents is accepted as the gold standard treatment for center-involving diabetic macular edema (CI-DME). Adjunctive administration of topical dorzolamide may enhance the therapeutic effects of anti-VEGF agents. In this study, we compared the efficacy of topical dorzolamide plus intravitreal injection of bevacizumab (IVB) versus IVB alone in patients with bilateral DME. METHODS: This prospective, randomized contralateral eye study was carried out in a tertiary referral ophthalmology center, Al-Zahra Eye Hospital, Zahedan, Iran, between April 2021 and April 2022. This study included 50 eyes of 25 patients with bilateral DME. All eyes received three consecutive monthly injections of IVB. For each patient, one eye was randomized to instill dorzolamide eye drops three times a day as an intervention, and the other received artificial tear drops as a placebo. Best-corrected visual acuity (BCVA), central macular thickness (CMT), and intraocular pressure (IOP) were evaluated before starting treatment and then monthly for the first three months. RESULTS: Among 25 included patients, the average age was 56.64 ± 7.97 years, and 48% were female. BCVA did not improve significantly in any groups (P > 0.05). No significant difference was observed in terms of BCVA between the intervention and control groups (P > 0.05). The present study showed a decrease in CMT in both study groups (P < 0.05). At month 3, the decrease in mean CMT from baseline was significantly higher in eyes receiving topical dorzolamide compared to the control group (-88.92 ± 82.90 vs. -37.64 ± 86.16 µM, respectively; P = 0.037). IOP decreased significantly only in eyes receiving dorzolamide (P < 0.001). CONCLUSIONS: The results of the present study indicate that adjunctive administration of topical dorzolamide has a beneficial effect on CMT reduction from baseline, but it did not have an additive effect on BCVA improvement compared to IVB monotherapy.

Ocular Manifestations of Alport Syndrome: Report and Comparison of Two Cases.

We report two cases of Alport syndrome and compare the clinical presentations and imaging findings in these cases. The clinical examination consisted of best-corrected visual acuity (BCVA), direct ophthalmoscopy, and slit-lamp examination. Macular optical coherence tomography (OCT) and anterior segment OCT (AS-OCT) and were utilized to document the details of the anterior and posterior segment pathologies. In order to evaluate systemic presentations of Alport syndrome, nephrology, and otolaryngology were consulted for each patient. In this study, the first case was a 27-year-old female with progressive myopia, anterior lenticonus, and temporal retinal thinning found in the ocular examination that led to the diagnosis of Alport syndrome. She underwent clear lens extraction and intraocular lens implantation, restoring acceptable visual acuity. The second case was a 20-year-old male patient with low visual acuity, severe bilateral anterior lenticonus, bilateral cataract, and temporal retinal thinning. The patient later developed renal failure and is a candidate for kidney transplantation. In this case report, progressive renal failure, hearing loss, and ocular abnormalities were all observed. This is consistent with previously reported cases given the typical characteristics of Alport syndrome, a rare inherited disease. The severity of those characteristics was higher in the male subject, a finding also consistent with prior reports indicating that males are usually affected more frequently and more severely than females, given that Alport syndrome is generally inherited as an X-linked disorder. Additionally, anterior segment and macular OCTs seemed to be of considerable significance in the early diagnosis of Alport syndrome given the typical ocular manifestations e.g. anterior lenticonus or temporal retinal atrophy.

Long-term effects of intraoperative topical bevacizumab in sutureless scleral tunnel trabeculectomy: a prospective clinical trial.

PURPOSE: To investigate the long-term efficacy and safety of the novel method sutureless trabeculectomy with topical administration of bevacizumab. MATERIALS/METHODS: Primary open-angle glaucoma patients with intraocular pressure (IOP) > 21 mmHg despite maximum tolerated medication were included in a single-blind prospective interventional clinical trial. Group 1 underwent sutureless scleral tunnel trabeculectomy with intraoperative topical administration of bevacizumab (1.25 mg) applied on the scleral incision for 1 min. Group 2 underwent sutureless trabeculectomy alone and group 3 (control group) underwent conventional trabeculectomy with mitomycin C (MMC). Outcome measures were surgical success, IOP, number of needed anti-glaucoma medications, and complications. Patients were followed for two years. RESULTS: Finally, 50 eyes from group 1, 46 from group 2, and 47 from group 3 were analyzed. At the end of 24 months, 52% (n = 26) of group 1, 34.8% (n = 16) of group 2, and 57.4% (n = 27) of group 3 had complete success (IOP < 18 mmHg without medication). The difference was only significant between groups 2 and 3 (p = 0.003). 94% (n = 47) of group 1, 89.1% (n = 41) of group 2, and 91.5% (n = 43) of group 3 had qualified success (IOP < 18 mmHg with ≤ 2 anti-glaucoma medications) (p = 0.69). There was a significant difference in the overall IOP mean between the three groups (p < 0.0001). There was no significant difference between the three groups in complication rates and the number of needed anti-glaucoma medications for IOP control. CONCLUSION: Sutureless trabeculectomy with topical application of bevacizumab showed comparable surgical success rates with conventional trabeculectomy and MMC in long-term follow-up. Additionally, adjuvant use of topical bevacizumab had a significant positive impact on long-term IOP control.

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.

BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by abnormal growth of scalp hair and juvenile macular degeneration leading to blindness. We have explored the genetic basis of HJMD in a large consanguineous family with 12 affected patients, 1-76 years of age, with characteristic phenotypes. METHODS: We first applied genome-wide homozygosity mapping to 10 affected individuals for linkage analysis to identify the genomic region of the defective gene. All affected individuals shared a 7.2 Mb region of homozygosity on chromosome 16q21-22.3, which harbored 298 genes, including CDH3, previously associated with HJMD. However, whole-exome sequencing (WES) failed to identify the causative mutation in CDH3. RESULTS: Further investigation revealed a missense variant in a gene closely linked to CDH3 (1.4 Mb distance: FHOD1: c.1306A>G, p.Arg436Gly). This variant was homozygous in all affected individuals and heterozygous in 18 out of 19 obligate carriers. While this variant was found by bioinformatics predictions to be likely pathogenic, a knock-in mouse for this variant, made by the CRISPR/Cas, showed no disease phenotype. However, using whole-genome sequencing (WGS), we were able to identify a novel Alu recombination-mediated deletion in CDH3:c.del161-811_246 + 1,044. CONCLUSION: WGS was able to identify a deep intronic deletion mutation, not detected by WES.