TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants.

Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.

Inherited and developmental eye diseases are quite diverse and numerous, and determining their genetic cause is challenging due to their high allelic and locus heterogeneity. New molecular approaches, such as whole exome sequencing (WES), have proven to be powerful molecular tools for addressing these cases. The present study used WES to identify the genetic etiology in ten unrelated Mexican pediatric patients with complex ocular anomalies and other systemic alterations of unknown etiology. The WES approach allowed us to identify five clinically relevant variants in the GZF1, NFIX, TRRAP, FGFR2 and PAX2 genes associated with Larsen, Malan, developmental delay with or without dysmorphic facies and autism, LADD1 and papillorenal syndromes. Mutations located in GZF1 and NFIX were classified as pathogenic, those in TRRAP and FGFR2 were classified as likely pathogenic variants, and those in PAX2 were classified as variants of unknown significance. Protein modeling of the two missense FGFR2 p.(Arg210Gln) and PAX2 p.(Met3Thr) variants showed that these changes could induce potential structural alterations in important functional regions of the proteins. Notably, four out of the five variants were not previously reported, except for the TRRAP gene. Consequently, WES enabled the identification of the genetic cause in 40% of the cases reported. All the syndromes reported herein are very rare, with phenotypes that may overlap with other genetic entities.

Long-term visual field changes after femtosecond laser-assisted cataract surgery in glaucoma patients, case series.

PURPOSE: To assess the short and long-term changes in Visual Field (VF) Mean Deviation (MD), Visual Field Index (VFI), and intraocular pressure (IOP) after femtosecond laser-assisted cataract surgery (FLACS) in glaucomatous eyes. MATERIALS AND METHODS: Interventional, prospective case series. Patients with glaucoma, who required cataract surgery were included. All patients underwent a complete ophthalmologic assessment and Visual Fields. FLACS was performed in all patients by a single experienced surgeon. IOP was measured during surgery immediately before and after pretreatment suction docking. Changes from baseline in VF MD and VFI, IOP, visual acuity (VA), and number of glaucoma medications were evaluated up to one-year follow-up. RESULTS: Fourteen eyes of 11 patients were included. Eighty-five percent were female, with a mean age of 74.2 ± 7.9 years. Nine (64.3%) and 5 (35.7%) were diagnosed with primary angle closure glaucoma (PACG) and primary open angle glaucoma (POAG), respectively. We found a slight IOP reduction after the docking phase during FLACS in both glaucoma subtype groups. No significant changes in visual field mean deviation (MD) and visual field index (VFI) were found from baseline to 12 months after surgery in both groups. A significant reduction in IOP values was found in all cases from baseline up to one year follow up. No significant changes were observed in BCVA and number of topical glaucoma medications after one year in both groups. CONCLUSION: In our patients, there was an IOP reduction immediately after suction docking FLACS pretreatment. Mean IOP at final follow-up showed a reduction from baseline. There was no change in VF MD and VFI from baseline to final one-year follow-up. FLACS appears to be well tolerated in early and moderate glaucoma and appears to be a safe tool for glaucoma patients undergoing cataract surgery. Similar results to traditional surgery can be obtained with the advantages of femtosecond laser precision.