No abstract

Stickler syndrome is an inherited connective tissue disorder that affects the eyes, cartilage and articular tissues. The phenotypes of Stickler syndrome include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft palate and midline facial hypoplasia. The disease is genetically heterogeneous, and the majority of the cases are caused by mutations in the COL2A1 gene. We examined 40 Japanese patients with Stickler syndrome from 23 families to determine whether they had mutations in the COL2A1 gene. This analysis was conducted by examining each patient’s genomic DNA by Sanger sequencing. Five nonsense, 4 splicing and 8 deletion mutations in the COL2A1 gene were identified, accounting for 21 of the 23 families. Different mutations of the COL2A1 gene were associated with similar phenotypes but with different degrees of expressivity.

To evaluate the efficacy of polyethylene glycol (PEG)-based synthetic sealant for closing bleb leaks after glaucoma filtration surgery. Methods: Tube shunt surgery that included implantation of a 22-gauge indwelling catheter and intraoperative mitomycin C was performed in the left eyes of 11 New Zealand white rabbits. Seven days postoperatively, all filtration blebs were perforated with an 18-gauge needle to create a bleb hole. In six rabbits, the holes were covered with the sealant and irradiated with blue-green light for 60 seconds; in the five control rabbits, the holes were untreated. For 3 weeks after the tube shunt surgery, the eyes were checked for bleb leaks, and the intraocular pressure (IOP) was measured in both eyes. Finally, the operated eyes were enucleated for histologic examination. Results: The bleb leaks stopped in the eyes in which sealant was used and persisted in the other eyes. The sealant preserved the bleb function; the IOPs in these eyes were significantly (P < 0.05) lower than the right eyes that did not undergo surgery. Hematoxylin and eosin staining showed that the holes were closed and covered with conjunctival epithelial cells in the eyes in which sealant was applied; the holes were open in the control eyes. Immunohistochemical staining showed that the bleb holes in which the sealant was applied had fewer inflammatory cells. Conclusions: The PEG sealant has the potential to seal bleb leaks effectively. Translational Relevance: Application of the PEG sealant can be used as adjunct therapy for bleb leaks in glaucoma surgery.

Von Hippel-Lindau (VHL) disease is a hereditary disorder that can lead to ophthalmic manifestations, including retinal capillary hemangioma (RCH). The diagnosis of RCH is often guided by wide-field fluorescein angiography. In some cases, optical coherence tomography angiography (OCT-A) serves as a non-invasive alternative to FA. Herein, we used OCT-A to examine the macular microvasculature in patients with VHL disease. Subjects Subjects were selected from patients with a diagnosis of VHL. The control group included eyes without retinal diagnosis from patients with an episode of unilateral retinal detachment or trauma and age � 50 years old. Methods Subjects were scanned on the Optovue RTVue-XR device to acquire 3mm x 3mm OCT-A images of the superficial (SCP) and deep capillary plexus (DCP). SCP and DCP vessel density (VD) were calculated after the images were binarized. Furthermore, for subjects with RCH, each OCT-A image was divided equally into four quadrants. SCP and DCP VD of quadrants with RCH were compared to those without RCH. T-tests were performed for statistical analysis. Results 67 eyes with a history of VHL disease were included as study subjects, while 16 eyes were included as controls. Significant increases in VD were found in patients with VHL disease for both the SCP (p = 0.0441) and DCP (p = 0.0344). When comparing quadrants with associated RCH development to those without, we found no significant difference in SCP VD (p = 0.160) or DCP VD (p = 0.484).

Background: The objective of this study was to experimentally investigate whether a new visual intervention with optical and binocular vergence demands prevents accommodative insufficiency and asthenopia after sustained periods of visual task. Methods: Fourteen female students were given the intervention with optical and binocular vergence demands for 1.5 min immediately after 20 min of a sustained task on a three-dimensional display. Before and after the trial, their ocular functions were measured and their symptoms assessed. A new type of intervention was developed that can vary optical and binocular vergence demands. For control, the subjects rested with eyes closed for 1.5 min after the task instead of the intervention. Results: In the control group, accommodative contraction time (from far to near) and accommodative relaxation time (from near to far) was delayed from 1.13 to 1.68 s and from 1.36 to 1.60 s, respectively, and the symptom of asthenopia increased after rest. In the intervention group, however, changes in those functions were smaller than those in the control group. Conclusions: These results suggest that the new intervention with optical and binocular vergence demands is effective for the treatment of accommodative insufficiency that follows sustained periods of visual task, and consequently, the symptom of asthenopia induced by accommodative insufficiency may decrease.