Spontaneous retinal reattachment and novel vitreoretinal phenotype in muscle eye brain disease determined by fundus multimodal imaging.

IntroductionMuscle eye brain disease (MEB) is a rare, multi-systemic autosomal recessively inherited disorder of relevance to ophthalmologists. The aim of this report is to describe a novel ocular phenotype for a genetically confirmed MEB patient using retinal multi-modal imaging.Case descriptionWe report a case of 18-year-old male patient that was referred to our tertiary unit for management of retinal detachment.

Retinal Vascularization Rate Predicts Retinopathy of Prematurity and Remains Unaffected by Low-Dose Bevacizumab Treatment.

Purpose: To assess the rate of retinal vascularization derived from ultra-widefield (UWF) imaging-based retinopathy of prematurity (ROP) screening as predictor of type 1 ROP and characterize the effect of anti-vascular endothelial growth factor (anti-VEGF) therapy on vascularization rate.

Design: Retrospective, consecutive cohort study.

Subjects: The study included 132 eyes of 76 premature infants with a mean gestational age (GA) of 26.

Physiological responses to retinopathy of prematurity screening: indirect ophthalmoscopy versus ultra-widefield retinal imaging.

Background/aims: Retinopathy of prematurity (ROP) screening is vital for early disease detection in very premature infants but can cause physiological instability. This study compares the physiological response to binocular indirect ophthalmoscopy (BIO) with indentation and non-contact ultra-widefield (UWF) retinal imaging in non-ventilated neonates. The impact of the Dandle WRAP, a specialised swaddling aid, on UWF imaging was also assessed.

Multimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.

Wagner syndrome is a rare autosomal dominant vitreoretinopathy caused by mutations in chondroitin sulphate proteoglycan 2 (CSPG2)/Versican (VCAN). Here, we present a retrospective case series of a family pedigree with genetically confirmed Wagner syndrome (heterozygous VCAN exon 8 deletion), as follows: a 34-year-old mother (P1), 12-year-old daughter (P2), and a 2-year-old son (P3). The phenotype included early-onset cataract (P1), optically empty vitreous with avascular membranes (P1, 2), nasal dragging of optic nerve heads associated with foveal hypoplasia (P1, 2), tractional retinoschisis on optical coherence tomography (P2), and peripheral circumferential vitreo-retinal interface abnormality resembling white-without-pressure (P3) progressing to pigmented chorio-retinal atrophy (P1, 2).

Retinal Development in Infants and Young Children With Albinism: Evidence for Plasticity in Early Childhood.

Meeting Presentation: Presented at the 2016 Association for Research in Vision and Ophthalmology meeting and at the 2015 British Isles Paediatric, Ophthalmology and Strabismus Association meeting.

Purpose: To investigate the time course of foveal development after birth in infants with albinism.

Design: Prospective, comparative cohort optical coherence tomography study.

A Network Meta-Analysis of Retreatment Rates following Bevacizumab, Ranibizumab, Aflibercept, and Laser for Retinopathy of Prematurity.

Topic: To compare bevacizumab, ranibizumab, aflibercept, and laser treatment as primary therapies for retinopathy of prematurity (ROP) in terms of retreatment rate.

Clinical Relevance: Anti-VEGF agents are increasingly used as primary treatment for ROP and may provide superior outcomes compared with laser in posterior disease. Head-to-head comparisons between different anti-VEGFs are lacking.

Discordant phenotypes in twins with infantile nystagmus.

Infantile nystagmus (IN) may result from aetiologies including albinism and FRMD7 mutations. IN has low prevalence, and twins with IN are rare. Whilst discordant presentation has been previously reported for IN, we present for the first time the comprehensive assessment of diagnostically discordant monozygotic twins.

Flying baby optical coherence tomography alters the staging and management of advanced retinopathy of prematurity.

Purpose: To report the use of flying baby spectral domain optical coherence tomography (SD-OCT) on infants with advanced retinopathy of prematurity (ROP), where clinical findings alone failed to differentiate between retinoschisis and retinal detachment.

Methods: Prospective, non-interventional case-series study of three premature infants with advanced ROP of clinically uncertain stage, after examination by indirect ophthalmoscopy. To confirm the diagnosis, table-mounted SD-OCT retinal imaging was performed with the infant held in the flying baby position under topical ocular anaesthesia only.

Can Structural Grading of Foveal Hypoplasia Predict Future Vision in Infantile Nystagmus?: A Longitudinal Study.

Purpose: To evaluate structural grading and quantitative segmentation of foveal hypoplasia using handheld OCT, versus preferential looking (PL), as predictors of future vision in preverbal children with infantile nystagmus.

Design: Longitudinal cohort study.

Participants: Forty-two patients with infantile nystagmus (19 with albinism, 17 with idiopathic infantile nystagmus, and 6 with achromatopsia) were examined.

Detection and characterisation of optic nerve and retinal changes in primary congenital glaucoma using hand-held optical coherence tomography.

Objective: To investigate (1) the feasibility of scanning the optic nerve (ON) and central retina with hand-held optical coherence tomography (HH-OCT) without sedation or anaesthesia in primary congenital glaucoma (PCG), (2) the characteristics of ON changes in comparison with adult primary open-angle glaucoma (POAG) in comparison with matched controls, (3) the sensitivity and specificity of ON parameters for diagnosis, and (4) changes of foveal morphology.

Methods And Analysis: HH-OCT (Envisu 2300; Leica Microsystems) was used to investigate ON and foveal morphology of 20 children with PCG (mean age 4.64±2.

Assessment of the anterior segment of patients with primary congenital glaucoma using handheld optical coherence tomography.

Purpose: To investigate the potential of handheld optical coherence tomography (HH-OCT) in assessing the anterior segment of the eye in patients with primary congenital glaucoma.

Design: A prospective, case-controlled observational study.

Participants: Twenty-two patients with primary congenital glaucoma (PCG, 9 females and 13 males; mean age 4.

Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.

Objective: To investigate the morphology of the retina and optic nerve (ON) in microcephaly.

Methods: This was a prospective case-control study including 27 patients with microcephaly and 27 healthy controls. All participants underwent ophthalmologic examination and handheld optical coherence tomography (OCT) of the macula and ON head.

Optic Nerve Head Development in Healthy Infants and Children Using Handheld Spectral-Domain Optical Coherence Tomography.

Purpose: To determine feasibility of optic nerve head (ONH) imaging and to characterize ONH development in full-term infants without sedation using handheld spectral-domain optical coherence tomography (SD OCT).

Design: Prospective cross-sectional study.

Participants: Three hundred fifty-two children aged between 1 day and 13 years.

Retinal development in albinism: a prospective study using optical coherence tomography in infants and young children.

Background: Retinal development normally involves migration of the inner retinal layers away from the fovea, migration of the cone photoreceptors into the fovea, and elongation of the photoreceptors over time. This process is arrested prematurely in albinism. However, because retinal development continues at least until the age of 4 years, when development arrests in albinism is uncertain.

In Vivo Foveal Development Using Optical Coherence Tomography.

Purpose: To characterize the time course of normal foveal development in vivo in term infants and young children using handheld spectral-domain optical coherence tomography (HH-SDOCT).

Methods: We obtained 534 HH-SDOCT scans from 261 infants, children, and young adults with a mean age of 4.9 years (range, 0-27 years).

Closed total (pan-talar) dislocation of the talus with delayed presentation: a rare case report and review of the literature.

Major fractures and dislocation of the talus and peritalar joint are uncommon. We present here a very rare case of injury with delayed presentation of closed total talus dislocation with fractured medial malleolus and posterior talar tubercle fracture. This report analyzes previous reports in the literature and the proposed treatment.