Chetan Kantibhai Patel

Purpose: To assess the rate of retinal vascularisation derived from ultra-widefield (UWF) imaging-based retinopathy of prematurity (ROP) screening as predictor of type 1 ROP and characterise the effect of anti-VEGF therapy on vascularisation rate. Design: Retrospective, consecutive cohort study. Subjects: 132 eyes of 76 premature infants with mean gestational age (GA) of 26.0(±2.0SD) weeks and birth weight (BW) of 815(±264) g, who underwent longitudinal UWF imaging for ROP screening. Setting/Venue: Level 3 neonatal unit in Oxford, United Kingdom Methods: The extent of retinal vascularisation on each UWF image was measured as the ratio between ‘disc-to-temporal vascular front’ and ‘disc-to-fovea’ distance along a straight line bisecting the vascular arcades. Measurements from ≥3 timepoints plotted against post-menstrual age (PMA) enabled calculation of temporal vascularisation rate (TVR) for each eye. Using TVR, GA and BW as predictors, a machine learning model was created to classify eyes as either Group AB (no ROP and type 2 ROP) or Group C (type 1 ROP). The model was validated in a withheld cohort of 32 eyes (19 infants) of which 8 eyes (5 infants) required treatment. TVR in 37 eyes (20 infants) was compared before and after ultra-low-dose (0.16 mg) intravitreal bevacizumab treatment. Main Outcome Measures: Rate of retinal vascularisation. Results: Slower retinal vascularisation correlated with increasing ROP severity, with TVR being 29% slower in Group C eyes (n=50) than Group AB eyes (n=33 no ROP and n=49 type 2 ROP) (p=0.04). Our model correctly predicted ROP outcomes of 30/32 eyes, achieving a balanced accuracy of 95.8%. No significant change in TVR was found before and after bevacizumab treatment with mean post-treatment imaging follow-up of 7.7(±7.9) weeks (p=0.60 right eyes, p=0.71 left eyes). Conclusions: UWF imaging-based ROP screening enables quantification of retinal vascularisation rate, which can provide early prediction of type 1 ROP independent of BW and GA. Rate of physiological retinal vascularisation does not appear to be significantly affected by ultra-low-dose anti-VEGF treatment, which has significant implications for the development of peripheral avascular retina and timing of anti-VEGF intervention to prevent disease progression in high risk infants.

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). P2 developed a macula-off retinal detachment, which was treated initially with encircling band + vitrectomy + gas, followed by vitrectomy + heavy silicone oil tamponade for re-detachment from new inferior breaks. Strong vitreo-retinal adhesion was noted intraoperatively, which prevented the separation of posterior hyaloid beyond the equator. Electroretinograms from P1&2 demonstrated attenuated b-waves, a-waves, and flicker responses in light- and dark-adapted conditions, suggestive of generalised retinal dysfunction. Our patients demonstrated the clinical spectrum of Wagner syndrome, highlighting nasal dragging with foveal disruption as a distinguishing feature from other inherited vitreoretinopathies. Surgical outcomes demonstrate significant challenges in managing vitreo-retinal traction and need for further research into strategies to prevent sight loss.

X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female infant with family history and genetic testing consistent with XLRS.

To establish the molecular diagnosis in two brothers presenting with the ocular features of Knobloch Syndrome using whole genome sequencing (WGS).Clinical examination and ophthalmological phenotypi...

Donnai Barrow Syndrome (DBS) is a rare, multi-system autosomal recessively inherited disorder of relevance to ophthalmologists. To aim to describe the ocular phenotype using multimodal imaging for ...

Objectives To audit the structural and functional outcomes of surgery for acute tractional retinal detachment due to retinopathy or prematurity between 2004 and 2014 in Oxford UK. Methods Consecutive operations were identified from a surgical log. Clinical data including demography, perioperative data, and retinal outcomes were extracted into a spreadsheet and compared against two international data sets referenced in the method section. Nonparametric tests (Fisher’s exact, and the Mann–Whitney U-tests) were used for statistical analysis with a p-value < 0.05 considered significant. Results Twenty-nine eyes of 19 babies underwent surgery. The mean age (SD) at final follow-up was 6.4 (3.7) years of age and comparable to the reference data sets. The mean birth weight and gestational age of babies matched the ETROP data set referenced in the method section. Anatomical success was obtained in 16/29 (55.2%) of eyes and more likely with stage 4 ROP than stage 5 disease (p < 0.05). Thirteen of 29 eyes (44.8%) obtained form vision post-operatively. All instances of macular retinal reattachment during follow up were verified with post-operative OCT. Conclusions Surgery for stage 5 ROP is not worthwhile. For stage 4 ROP it yielded better visual outcomes than ETROP but registration for visual impairment was not prevented. Innovation such as endoscopic vitrectomy could yield better outcomes. Earlier detection of vitreoretinal fibrosis could result in timelier referral. A formally funded national service is needed to ring-fence resource to avoid delays in access to surgery, which has a narrow surgical window.