Applications of the Guarded-Needle External Drainage Technique in Vitreoretinal Surgery.

PURPOSE: To describe the surgical technique using the guarded-needle external drainage for a wide variety of applications in vitreoretinal surgery. METHODS: A step-by-step procedure and a surgical video using the guarded-needle external drainage technique are presented. In addition, a series of representative cases with wide-ranging diagnoses who underwent the technique is reviewed. DESCRIPTION AND TECHNIQUE: The guarded-needle using a 27-gauge thin-walled TSK needle (TSK Laboratory International) and a trimmed 70 buckle sleeve are connected to the active extrusion tubing of the vitrectomy machine. External drainage is performed by actively aspirating subretinal fluid using low active vacuum. The guarded-needle external drainage technique is used in cases with bullous detachments, and small and anterior breaks, when performing scleral buckle, for prevention of underfill when using oil tamponade in cases with choroidal effusion, addressing subretinal gas/air, lysing a subretinal band, draining a suprachoroidal hemorrhage, for diabetic tractional retinal detachments, detachments with no definitive break, and subretinal biopsy in exudative detachments. CONCLUSION: The guarded-needle external drainage has a wide range of applications in vitreoretinal surgery.

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.

PURPOSE: To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults. DESIGN: Retrospective case series. PARTICIPANTS: Patients with a detailed clinical phenotype consistent with ARB, biallelic likely disease-causing sequence variants in the BEST1 gene, or both identified at a single tertiary referral center. METHODS: Review of case notes, retinal imaging (color fundus photography, fundus autofluorescence, OCT), electrophysiologic assessment, and molecular genetic testing. MAIN OUTCOME MEASURES: Visual acuity (VA), retinal imaging, and electrophysiologic changes over time. RESULTS: Fifty-six eyes of 28 unrelated patients were included. Compound heterozygous variants were detected in most patients (19/27), with 6 alleles recurring in apparently unrelated individuals, the most common of which was c.422G→A, p.(Arg141His; n = 4 patients). Mean presenting VA was 0.52 ± 0.36 logarithm of the minimum angle of resolution (logMAR), and final VA was 0.81 ± 0.75 logMAR (P = 0.06). The mean rate of change in VA was 0.05 ± 0.13 logMAR/year. A significant change in VA was detected in patients with a follow-up of 5 years or more (n = 18) compared with patients with a follow-up of 5 years or less (n = 10; P = 0.001). Presence of subretinal fluid and vitelliform material were early findings in most patients, and this did not change substantially over time. A reduction in central retinal thickness was detected in most eyes (80.4%) over the course of follow-up. Many patients (10/26) showed evidence of generalized rod and cone system dysfunction. These patients were older (P < 0.001) and had worse VA (P = 0.02) than those with normal full-field electroretinography results. CONCLUSIONS: Although patients with ARB are presumed to have no functioning bestrophin channels, significant phenotypic heterogeneity is evident. The clinical course is characterized by a progressive loss of vision with a slow rate of decline, providing a wide therapeutic window for anticipated future treatment strategies.

ENDOGENOUS FUNGAL ENDOPHTHALMITIS AFTER COVID-19 INFECTION: CASE REPORT AND REVIEW OF LITERATURE.

PURPOSE: The purpose of this study was to describe a case of endogenous endophthalmitis (EE) after severe COVID-19 disease, review patient outcomes with EE after COVID-19 infection, and review evidence regarding risk factors for developing EE. METHODS: This is a review of health records, imaging, intravitreal injection, and pars plana vitrectomy for bilateral fungal EE after severe COVID-19 disease, and is a literature review on outcomes in EE after COVID-19 disease. RESULTS: Sixty-three year-old man with diabetes and hypertension was admitted to hospital for severe COVID-19 disease for 3 months. His stay required intensive care unit admission, intubation, high-dose corticosteroids, tocilizumab, and was complicated by bacteremia, empyema, and fungal esophagitis. He developed floaters and bilateral vision loss (visual acuity 20/40 in the right eye, counting fingers in the left eye) with vitritis 2.5 months into his stay that did not respond to intravitreal voriconazole. Pars plana vitrectomy was performed for both eyes, resulting in visual acuity of 20/40 in the right eye, 20/30 in the left eye. Vitreous cultures were positive for Candida albicans . Endogenous endophthalmitis after COVID-19 disease has been reported in 22 patients to date, and outcomes are poor, with 40%+ of eyes legally blind (20/200 or worse). Although influenced by availability of imaging modalities and degree of training of the evaluating physician, misdiagnosis can affect » of cases, delaying treatment. Age, male sex, and diabetes increase the risk of severe COVID-19, which requires prolonged hospitalization, invasive catheterization, and immunosuppression, which in turn increases the risk of nosocomial infection. CONCLUSION: Low threshold for suspecting EE in patients presenting with floaters and decreased vision after severe COVID-19 disease is necessary to ensure prompt recognition and treatment.

Artificial intelligence and machine learning in ophthalmology: A review.

Since the introduction of artificial intelligence (AI) in 1956 by John McCarthy, the field has propelled medicine, optimized efficiency, and led to technological breakthroughs in clinical care. As an important frontier in healthcare, AI has implications on every subspecialty within medicine. This review highlights the applications of AI in ophthalmology: a specialty that lends itself well to the integration of computer algorithms due to the high volume of digital imaging, data, and objective metrics such as central retinal thickness. The focus of this review is the use of AI in retina, cornea, anterior segment, and pediatrics.

Survival and characteristics of retinopathy of prematurity in micro-premature infants.

OBJECTIVE: To describe the risk and nature of retinopathy of prematurity (ROP) in micro-premature infants (≤26 weeks' gestational age [GA]). METHODS: Retrospective analysis of prospectively collected data from infants born at 22-26 weeks' GA over a 5-year period. RESULTS: A total of 502 infants were identified, of whom 414 survived to discharge (82.5%). The Vermont Oxford Network database documented clinical follow-up data and ROP outcomes for all 414 patients; complete ROP clinical records were available for 294 of the infants who survived (70.8%). Forty infants were born between 22 and 23 weeks' GA (group A, 13.6%), and 254 were born between 24 and 26 weeks' GA (group B, 86.4%). Survival for group A infants was worse than that of group B infants (66.2% vs 85.4%; p < 0.01). Survival of group A infants improved during the study period (R2 = 0.625). Overall, 59.9% of infants developed any ROP and 8.5% developed type 1 ROP. Group A infants were more likely to develop ROP (90.0% vs 48.6%; p < 0.01) and type 1 ROP (30.0% vs 5.1%; p < 0.01) than group B infants. Group A infants developed ROP at an earlier age (32 + 6 weeks vs 33 + 3 weeks; p = 0.02) and were more likely to have zone I disease on presentation (65.0% vs 20.5%; p < 0.01), but there was no difference in the corrected gestational age of peak severity of ROP (35 + 2 weeks vs 34 + 5 weeks; p = 0.36). CONCLUSION: The most premature infants, born at 22-23 weeks' GA, develop ROP at an earlier age, are more likely to present with posterior disease, and have a high risk of disease requiring treatment.

INTERNAL CHANDELIER-ASSISTED MACULAR BUCKLING FOR MYOPIC FOVEOSCHISIS.

PURPOSE: To present a surgical technique and case presentation of internal chandelier-assisted macular buckling for myopic foveoschisis. METHODS: Review of patient clinical features, visual acuity, and optical coherence tomography results after internal chandelier-assisted macular buckling for myopic foveoschisis. RESULTS: A 48-year-old highly myopic woman (axial length 29.85 mm) underwent internal chandelier-assisted macular buckling for myopic foveoschisis with macular detachment. The best-corrected visual acuity improved from 20/150 to 20/40. Postoperative optical coherence tomography confirmed central buckle positioning and demonstrated resolved foveoschisis and macular detachment. There were no complications. CONCLUSION: Internal chandelier-assisted macular buckling is a valuable tool to optimize buckle position and patient outcomes.

Optimising prediction of early metastasis-free survival in uveal melanoma using a four-category model incorporating gene expression profile and tumour size.

BACKGROUND: Largest basal diameter (LBD) appears to have independent prognostic value in uveal melanoma (UM). METHODS: All patients undergoing plaque brachytherapy or enucleation for UM involving the choroid and/or ciliary body between 2012 and 2019. RESULTS: A total of 348 patients with a mean age of 60±14 years were included and followed for a mean of 40±26 months (3.3±2.2 years). On multivariate analysis, LBD >12 mm remained a significant independent predictor of metastasis for both class 1 (HR 21.90; 95% CI 2.69 to 178.02; p=0.004) and class 2 (HR 2.45; 95% CI, 1.03 to 5.83; p=0.04) tumours. Four prognostic groups were created: group 1 (class 1, LBD <12 mm), group 2 (class 1, LBD ≥12 mm), group 3 (class 2, LBD <12 mm) and group 4 (class 2, LBD ≥12 mm). Life tables were used to calculate the 3-year and 5-year metastasis-free survival: group 1 (98 and 98%), group 2 (86 and 86%), group 3 (81 and 62%) and group 4 (54 and 47%). Compared with the reference category (group 1), the Cox proportional hazard model demonstrated a significant worsening of survival for each progressive category (group 2 (HR 21.59; p=0.004), group 3 (HR 47.12, p<0.001), and group 4 (HR 114.24; p<0.001)). In our dataset, the four-category Cox model performed poorer compared with the American Joint Committee on Cancer (AJCC) and gene expression profile (AJCC+GEP) in the Akaike's information criteria (AIC) (297 vs 291), fit better with the Bayesian information criteria (BIC) (309 vs 313) and performed similarly with the Harrel's C (0.86 (95% CI 0.80 to 0.91) vs 0.89 (0.84 to 0.94), respectively). CONCLUSIONS: Combination of GEP and LBD allows separation of patients into four easy-to-use prognostic groups and was similar to a model combining AJCC stage with GEP.

Pneumatic Vitreolysis With Intravitreal Air for Focal Vitreomacular Traction.

Purpose: To determine whether pneumatic vitreolysis with intravitreal air is effective for focal vitreomacular traction (VMT). Methods: We conducted a retrospective consecutive case series of 20 eyes from 19 individuals with focal VMT who underwent pneumatic vitreolysis with intravitreal air (January 2017 to November 2018). We analyzed patients via spectral-domain optical coherence tomography before intravitreal air injection and at 1 month. The primary outcome measure was release of VMT. Results: We observed release of VMT in 55% of individuals. An analysis limited to phakic eyes demonstrated release of VMT in 69%, and 65% developed improved best-corrected visual acuity. Individuals with persistent VMT and visual improvement had a significant reduction in angle of vitreoretinal insertion (P < .01), area under VMT (P < .05), and subfoveal cyst area (P < .05). Conclusions: Intravitreal air is an effective treatment for focal VMT. In individuals with persistent VMT, visual-acuity improvement was associated with a reduction in overall VMT.

Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.

PURPOSE: To present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rarely (n = 3) previously associated with the disease. METHODS: Retrospective case series of LCA/EOSRD from four pedigrees. Chart review of clinical notes, multimodal retinal imaging, electrophysiology, and molecular genetic testing at a single tertiary referral center (Moorfields Eye Hospital, London, UK). RESULTS: The mean age of presentation was 3 months of age, with disease onset in the first year of life in all cases. Molecular genetic testing revealed the following disease-causing variants: PRPF8 (heterozygous c.5804G > A), PRPH2 (homozygous c.620_627delinsTA, novel variant), RP1 (homozygous c.4147_4151delGGATT, novel variant) and RPGR (heterozygous c.1894_1897delGACA). PRPF8, PRPH2, and RP1 variants have very rarely been reported, either as unique cases or case reports, with limited clinical data presented. RPGR variants have not previously been associated with LCA/EOSRD. Clinical history and detailed retinal imaging are presented. CONCLUSIONS: The reported cases extend the phenotypic spectrum of PRPF8-, PRPH2-, RP1-, and RPGR-associated disease, and the genotypic spectrum of LCA/EOSRD. The study highlights the importance of retinal and functional phenotyping, and the importance of specific genetic diagnosis to potential future therapy.

Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.

PURPOSE: To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling. DESIGN: Retrospective case series. METHODS: Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings. RESULTS: Twenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C, n=2; MYO7A, n=2; CDH3, n=1; EYS, n=1), X-linked (XL, n=4: PRPS1, n=1; RPGR, n=3), and autosomal dominant (AD, n=16: IMPDH1, n=3; RP1, n=3; RHO, n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP (PRPS1, MYO7A, EYS, IMPDH1, and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1, and RHO-associated sector RP. CONCLUSIONS: The genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments.

Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I.

BACKGROUND: Waardenburg syndrome type I (WS-I) is a rare autosomal-dominant auditory-pigmentary disorder with limited reports in the Ophthalmic literature. MATERIALS AND METHODS: We describe the history, clinical findings and detailed retinal imaging (ultra-widefield fundus images, fundus autofluorescence and optical coherence tomography) from a patient with WS-I. CASE DESCRIPTION: Our patient had a history of white forelock and congenital hearing loss. Ophthalmic examination demonstrated iris heterochromia and highly asymmetric choroidal hypopigmentation, with generalised fundus hyperautofluorescence. Similarly, the patient's mother demonstrated highly asymmetric fundus hypopigmentation. Genetic testing confirmed a pathogenic PAX3 nonsense variant. CONCLUSION: Our report demonstrates that highly asymmetric choroidal hypopigmentation is within the clinical spectrum of WS-I. ABBREVIATIONS: OCT: Optical coherence tomography; WS-I: Waardenburg syndrome type 1.

Two Cases of Giant Melanocytoma (Hyperpigmented Magnocellular Nevus).

Melanocytoma or hyperpigmented magnocellular nevus is a variant of melanocytic nevus that is most commonly seen in the optic nerve, but has also been reported to occur in the iris, ciliary body, choroid, sclera, and conjunctiva. We present two cases of giant uveal melanocytoma with histopathology. The first case occurred in a 10-year-old girl who presented with decreased vision in the right eye and a mushroom-shaped pigmented choroidal lesion measuring 15.5 mm in apical height. The lesion was abutting the lens but not causing a cataract. This was diagnosed as a choroidal melanocytoma on open scleral window biopsy. The second case was in a 68-year-old lady, referred for a left nasal pigmented choroidal lesion measuring 8 mm in apical height and having a mushroom configuration. The lesion grew to 8.6 mm in height and was complicated by a vitreous hemorrhage and rhegmatogenous retinal detachment and was treated with iodine-125 plaque brachytherapy. Subsequently, the treated eye became a painful phthisical eye and was enucleated. Histopathology confirmed melanocytoma with extrascleral extension but without malignant transformation. Features of melanocytoma and other very large cases reported in the literature are discussed.

Distinguishing Central Serous Chorioretinopathy From Neovascular Age-Related Macular Degeneration: A Prospective Study.

Purpose: This article identifies clinical features that differentiate central serous chorioretinopathy (CSR) from neovascular age-related macular degeneration (nAMD) and uses this information to develop a diagnostic tool. Methods: A prospective observational study was conducted of patients with a new diagnosis of CSR, nAMD, or indeterminate presentation. All patients underwent clinical assessment, axial length measurement, enhanced-depth imaging-optical coherence tomography, and intravenous fluorescein angiography. A final consensus diagnosis was derived following review of these factors. Results: A total of 56 eyes of 56 patients were enrolled (CSR = 34; nAMD = 22). The subfoveal choroidal thickness was greater in the CSR group (421 ± 106 µm) than the nAMD group (219 ± 91 µm, P < .001). The following odds ratio of CSR reached statistical significance: age 70 and younger (72.00, 95% CI: 11.99-432.50), subfoveal choroidal thickness greater than or equal to 300 µm (33.92, 95% CI: 4.06-283.18), dome-shaped neurosensory detachment (13.24, 95% CI: 3.22-54.45), retinal pigment epithelial changes (0.31, 95% CI: 0.10-0.97), subretinal hyperreflective material (0.11, 95% CI: 0.03-0.42), and fibrovascular pigment epithelial detachment (0.05, 95% CI: 0.01-0.47). A stepwise CSR vs nAMD clinical decision-making algorithm is proposed. Conclusions: Choroidal thickness is increased in CSR when compared with nAMD. The presented odds ratios and the CSR vs nAMD clinical decision-making tool can be applied to distinguish CSR from nAMD.

Macular buckle without vitrectomy for myopic macular schisis: a Canadian case series.

OBJECTIVE: To determine the effectiveness of a macular buckle procedure without vitrectomy for the treatment of symptomatic myopic macular schisis. DESIGN: Retrospective case series. PARTICIPANTS AND METHODS: All patients who underwent surgery with placement of an NPB macular buckle (AJL Ophthalmic, Miñano, Álava, Spain) without vitrectomy for symptomatic myopic macular schisis were included. Visual acuity and anatomical outcomes based on optical coherence tomography (OCT) were reviewed. RESULTS: Eight consecutive eyes from 7 patients were included. Six of the 7 patients were female and the mean age was 59 ± 6 years (range, 49-66 years). The mean follow-up duration was 11 ± 7 months (range, 3-23 months). Mean preoperative axial length was 29.54 ± 1.28 mm (range, 27.88-31.96 mm). Mean preoperative best-corrected visual acuity (BCVA) was 0.71 ± 0.29 logMAR (Snellen equivalent 20/103); mean postoperative BCVA was 0.46 ± 0.44 (Snellen equivalent 20/58; p = 0.19) and 87.5% of patients maintained or improved vision. Pre- and postoperative OCT images are included and discussed within. Preoperative ellipsoid zone status and postoperative central macular buckle indentation appear to be important in visual outcomes. Two patients required a buckle repositioning for persistent schisis. One patient developed a macular hole postoperatively that resolved with subsequent vitrectomy. There were no other complications. CONCLUSIONS: The macular buckle is an effective and promising therapeutic option for myopic macular schisis.

Deep learning in ophthalmology: a review.

Deep learning is an emerging technology with numerous potential applications in Ophthalmology. Deep learning tools have been applied to different diagnostic modalities including digital photographs, optical coherence tomography, and visual fields. These tools have demonstrated utility in assessment of various disease processes including cataracts, glaucoma, age-related macular degeneration, and diabetic retinopathy. Deep learning techniques are evolving rapidly, and will become more integrated into ophthalmic care. This article reviews the current evidence for deep learning in ophthalmology, and discusses future applications, as well as potential drawbacks.