Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.

The COL9A3 gene encodes one of the three alpha chains of Type IX collagen, with heterozygous variants reported to cause multiple epiphyseal dysplasia, and suggested as contributory in some cases of sensorineural hearing loss. Patients with homozygous variants have midface hypoplasia, myopia, sensorineural hearing loss, epiphyseal changes and carry a diagnosis of Stickler syndrome. Variants in COL9A3 have not previously been reported to cause vitreoretinal degeneration and/or retinal detachments. This report describes two families with autosomal dominant inheritance and predominant features of peripheral vitreoretinal lattice degeneration and retinal detachment. Genomic sequencing revealed a heterozygous splice variant in COL9A3 [NG_016353.1(NM_001853.4):c.1107 + 1G>C, NC_000020.10(NM_001853.4):c.1107 + 1G>C, LRG1253t1] in Family 1, and a heterozygous missense variant [NG_016353.1(NM_001853.4):c.388G>A p.(Gly130Ser)] in Family 2, each segregating with disease. cDNA studies of the splice variant demonstrated an in-frame deletion in the COL2 domain, and the missense variant occurred in the COL3 domain, both indicating the critical role of Type IX collagen in the vitreous base of the eye.

Early Pars Plana Vitrectomy for Treatment of Acute Infective Endophthalmitis.

PURPOSE: To evaluate the efficacy and safety of early pars plana vitrectomy (PPV) for the treatment of acute infective endophthalmitis, and identify prognostic factors for better visual outcome. DESIGN: Retrospective cohort study. METHODS: Consecutive patients who underwent early PPV within 72 hours of presentation for the treatment of acute infective bacterial endophthalmitis and presented to a large tertiary referral center in New South Wales, Australia, between January 2009 and December 2013 were included. Changes in best-corrected visual acuity (VA) from baseline to 1 year were examined. RESULTS: A total of 64 patients were included. The inciting events were cataract surgery (53%), intravitreal injection (36%), trabeculectomy (3%), and endogenous (3%). The mean VA improved from 3.1 logMAR (hand motion) at baseline to 1.02 (approximately 20/200) at 1 year, with 42% achieving final VA equal to or better than 0.477 logMAR (20/60) following early PPV. Positive prognostic factors were negative microbial cultures (P < 0.01) and etiology of post-cataract surgery (P < 0.01). In multivariable analyses adjusting for age and prognostic factors, patients with baseline VA of light perception and hand motion achieved greater visual gains than those with counting fingers, with gains of logMAR of -2.68, -2.09, and -0.85, respectively (P < 0.0001). CONCLUSIONS: Most patients who undergo early PPV experience substantial VA improvement. Negative microbial cultures and endophthalmitis after cataract surgery were associated with better final visual outcome. Patients with presenting VA of light perception or hand motion achieved higher visual gains than those with counting fingers, suggesting the possibility that early PPV may be beneficial in both groups.

Acute idiopathic maculopathy with coxsackievirus infection.

PURPOSE: To report a case of visual loss immediately after hand, foot, and mouth disease and demonstrate the high-resolution optical coherence tomography findings. METHODS: A retrospective case report of a 19-year-old nursery worker with resolving hand, foot, and mouth disease and acute unilateral visual loss. RESULTS: The clinical features were characteristic of unilateral acute idiopathic maculopathy. High-resolution optical coherence tomography demonstrated highly reflective subretinal material at the macula of one eye with disruption of the photoreceptor inner segment/outer segment junction. Vision remained poor for 4 weeks when there was rapid recovery coinciding with reconstitution of the inner segment/outer segment junction on optical coherence tomography. CONCLUSION: Unilateral acute idiopathic maculopathy may be caused by Coxsackievirus infection. Optical coherence tomography and clinical findings suggest an acute viral retinal pigment epitheliitis to be the main pathologic feature.

Ablation of subretinal tissue with optical fiber delivered 266 nm laser pulses.

New and more precise subretinal surgical techniques would be useful in a range of retinal diseases. The purpose of this study is to determine the feasibility of using fiberoptically delivered ultraviolet laser energy to transect or ablate subretinal tissues. Choroid segments dissected from fresh porcine eyes, with or without the retinal pigment epithelium (RPE), were clamped in a fluid bath. Pulsed fourth harmonic (266 nm) of a Nd:YAG laser radiation was delivered via an optical fiber probe at fluence levels between 0.08 and 0.40 J/cm(2). The tissue was then fixed and sectioned for histological examination. Radiation induced damage was categorized by the degree of tissue disruption and ablation depth. Tissue ablation and the severity of the tissue injury varied with both tissue properties and applied laser parameters. Disruption of Bruch's membrane was typically induced by 10 pulses of 0.30 J/cm(2) or 2 pulses of 0.40 J/cm(2). Lower radiation doses did not disrupt Bruch's membrane, but did damage the choroidal tissue and produce vacuoles in the underlying choroid. The full thickness of the choroid was ablated by 200 pulses of 0.40 J/cm(2). The presence of the RPE produced a shielding effect which was greater than would be expected for an equivalent thickness of choroidal tissue. Ablation characteristics of subretinal tissue are highly dependent on the laser parameters used and the type of tissue involved. To perform well controlled laser surgery on subretinal tissues both laser parameters and the properties of the target cells and tissues have to be considered.

Optical coherence tomography findings of acute traumatic maculopathy following motor vehicle accident.

PURPOSE: To describe two cases of acute traumatic maculopathy using optical coherence tomography (OCT) following high-speed motor vehicle accidents. DESIGN: Case reports. METHODS: Patients were examined soon after the accident using Snellen visual acuity (VA), dilated fundus examination, and OCT. Re-examination was conducted two weeks to one month later. RESULTS: Both patients experienced an immediate reduction in VA of between 20/120 and 20/200. An abnormal yellow foveal reflex was noted at fundus examination in both cases. OCT revealed outer retinal thickening under the fovea and of the neurosensory retina with preservation of the inner retinal architecture and foveal pit. These OCT changes resolved approximately within two weeks of the accidents with near resolution of the visual disturbance in both cases. CONCLUSIONS: We describe two cases of acute traumatic maculopathy, including its appearance on OCT imaging.