Susceptibility of optic nerve head in children with posture-related elevation of intraocular pressure.

BACKGROUND/AIMS: This work aimed to investigate changes in optic nerve head (ONH) morphometry based on Bruch membrane opening in children with extensive nocturnal intraocular pressure (IOP) elevations. METHODS: The course of Bruch membrane opening-based optic nerve head (ONH) morphometry was analysed in thirty-two patients younger than 18 years with evaluable SD-OCT examinations of the ONH and nocturnal posture-dependent IOP elevation above 25 mmHg. Longitudinal changes in neuroretinal rim tissue, as measured by Bruch Membrane opening minimum rim width (BMO-MRW) and peripapillary retinal nerve fiber layer (RNFL) thickness, were assessed. RESULTS: One year after the 24 h IOP measurement, global BMO-MRW (- 1.61 ± 16.8 µm, n.s.; p = 0.611) and RNFL (+ 0.64 ± 3.17 µm; n.s.; p = 0.292) measurements were not significantly different from the baseline. No significant BMO-MRW reduction (- 3.91 ± 24.3 µm; n.s. p = 0.458) or deviation in RNFL thickness (+ 1.10 ± 3.52 µm) was observed at the four-year follow-up. Absolute IOP values measured in the supine position did not correlate with changes in global BMO-MRW or RNFL thickness. CONCLUSION: Posture-dependent IOP elevations do not seem to influence retinal nerve fibre layer thickness or Bruch membrane opening-based morphometric data in childhood.

Posture-related fluctuations of intraocular pressure in healthy children with suspicion of glaucoma.

PURPOSE: Currently, there are no specific data on the circadian course of intraocular pressure (IOP) in children, especially for IOP measurements in the supine position. The study aimed to characterize the diurnal and nocturnal IOP fluctuations in supine and sitting positions in patients less than 18 years of age. METHODS: Seventy-nine eyes of 79 patients under 18 years of age with suspicious optic nerve heads or ocular hypertension could be included in this study. All included patients showed an inconspicuous retinal nerve fiber layer thickness and Bruch's membrane minimum rim width by coherence tomography. IOP measurements during the 24-h IOP profile were retrospectively evaluated. Measurements were taken at 10:00, 16:00, 20:00, and 23:00 h in the sitting position and at 6:00 h in the morning in the supine position using iCare rebound tonometry on 2 consecutive days. RESULTS: Thirty-four of 79 children (43.0%) had peak nocturnal IOP values > 25 mmHg. The mean daily IOP was 18.8 ± 5.6 mmHg, and the mean daily fluctuation was 6.1 ± 4.0 mmHg. At 6 am, supine measurements were elevated to 25.1 ± 8.0 mmHg. Extensive fluctuations with values > 40 mmHg in the nocturnal supine measurement occurred in a relevant share of patients (n = 5). CONCLUSION: There appear to be relevant diurnal and nocturnal IOP fluctuations in healthy children (< 18 years). Nocturnal IOP measurements in supine patients with risk factors for glaucoma may provide important additional information to identify critical patients for further follow-up.

[Revision of the PRESERFLO® MicroShunt with ologen and mitomycin C]. / Revision des PRESERFLO® MicroShunts mit Ologen und Mitomycin C.

Bleb failure after implantation of filtering stents (e.g. Preserflo Stent) is a frequent challenge in glaucoma surgery that has occurred in recent years. In the following, a technique for open bleb revision with mitomycin C (0.2 mg/ml) and ologen implantation is presented, which is intended to re-establish the filtration volume lost due to fibrosis and a long-term preservation.

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1, -X2 and -X3). In this study, we analysed a large family of German origin with solely affected males over three generations showing a CORDX-like phenotype. Due to the heterogeneity of cone-rod dystrophies, we performed a combined linkage and X-exome sequencing approach and identified a novel large intragenic in-frame deletion encompassing exons 18 to 26 within the CACNA1F gene. CACNA1F is described causative for CORDX3 in a single family originating from Finland and alterations in this gene have not yet been reported in other CORDX pedigrees. Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations.