Switch to faricimab after initial treatment with aflibercept in eyes with diabetic macular edema.

PURPOSE: To assess the effectiveness of a switch to faricimab in individuals affected by DME and previously treated with aflibercept. METHODS: In this retrospective, single-center study, DME patients previously treated with at least 3 injections of aflibercept then switched to faricimab were enrolled. Best corrected visual acuity (BCVA) and central subfield thickness (CST) were recorded at baseline, at the time of the switch and at 6 months follow-up. At transition to faricimab, patients were categorized as "good visual responders" (≥ 5 letters from baseline) or "poor visual responders" (< 5 letters), and as "good anatomical responders" (any reduction in edema compared to baseline) or "poor anatomical responders" (no reduction or worsening of edema). Changes in BCVA and CST were recorded at 6 months after the switch to faricimab. RESULTS: 100 eyes of 100 patients (61 female, 61%) were switched to faricimab after a mean of 6.8 ± 3.3 aflibercept injections. At the 6 months follow-up, only "poor visual responders" (N = 62) demonstrated a meaningful increase in BCVA (Δswitch-6M = + 5 letters; P = 0.007), coupled with a reduction in CST (Δswitch-6M = - 67.9 µm; P = 0.004); participants with "poor anatomical response" upon transitioning exhibited a significant functional gain (Δswitch-6M = + 4.5 letters; p = 0.05) but limited CST enhancements (Δswitch-6M = - 95.1 µm; p = 0.05). CONCLUSIONS: Faricimab shows a positive impact on anatomical and functional metrics in DME cases refractory to aflibercept.

Outcomes after giant peripheral retinotomy and anterior flap retinectomy for rhegmatogenous retinal detachments with advanced proliferative vitreoretinopathy using small gauge vitrectomy.

PURPOSE: To analyze the visual and anatomical outcomes for eyes with rhegmatogenous retinal detachment (RRD) and advanced proliferative vitreoretinopathy (PVR) undergoing giant peripheral retinotomy (GPR) using 25-gauge pars plana vitrectomy (PPV). METHODS: In this retrospective multi-center study, patients with RRD with either anteroposterior or circumferential retinal shortening and advanced PVR requiring more than 90-degree GPR with/without relaxing retinotomy were included. Subjects of either gender, any age group, and with complete surgical notes were included. Outcome measures of the study included anatomical success (i.e. complete retinal re-attachment) at 6 months using survival analysis, visual outcomes, and post-operative complications. RESULTS: Forty-one eyes of 41 patients (33 males) with a mean age of 44.9 ± 21.4 years were included. At 6 months follow-up, anatomical success was seen in 29 eyes (70.7%) with a cumulative re-attachment rate of 66% (95% confidence interval = 48 = 79%). All re-detachments occurred at ≤6 months with a peak at 4-6 months (n = 9). Twenty-three eyes (56%) achieved ambulatory vision (5/200) or better. Direct perfluorocarbon liquid-silicone oil exchange was performed in 20 eyes. Intra-operative complications included persistent retinal folds (2 eyes), subretinal air (1 eye), and subretinal bleed (1 eye). Eleven eyes (26.8%) developed secondary glaucoma (2 eyes required a drainage device), and hypotony of ≤6 mmHg was noted in 3 eyes (7.3%). Corneal decompensation was noted in 8 eyes (19.5%), and 3 eyes (7.3%) underwent re-surgery for re-RRD. CONCLUSION: After GPR using small gauge PPV, two-thirds achieve anatomical success, and over half have ambulatory vision, but overall post-operative complications can occur in more than half of the eyes.

Acute macular neuroretinopathy associated with intravitreal anti-VEGF injection: A case report.

Purpose: to report a case of acute macular neuroretinopathy occurring after intravitreal aflibercept injection for macular edema due to CRVO. Observations: Two days after Aflibercept intravitreal injection, the patient developed vision loss associated with a central scotoma. Optical coherence tomography showed a hyperreflective band at the level of the outer nuclear/outer plexiform layer corresponding to the patient's scotoma, ruling in the diagnosis of acute macular neuroretinopahty. Even though the OCT abnormalities resolved spontaneously, only partial resolution of the scotoma was observed 4 months later. Conclusions and importance: Acute macular neuroretinopathy might be associated with intravitreal anti-VEGF injection.

Adult-onset bestrophinopathy mistaken as central serous chorioretinopathy.

PURPOSE: To highlight cases of adult-onset bestrophinopathy mistaken as central serous chorioretinopathy (CSCR). METHODS: Retrospective case series. RESULTS: Two unrelated adult males (54 years old and 43 years old) with serous macular detachments were managed as CSCR. One had been treated with intraocular injections and oral mineralcorticoid inhibitors. Independently, each had an 8-year-old son who presented with classic Best disease, which raised suspicion for bestrophinopathy in their fathers. Bestrophin sequencing confirmed each son to be heterozygous for a pathogenic variant, and targeted testing confirmed each respective father to harbor the same heterozygous pathogenic variant as his son. Electro-oculography of the first father-son pair confirmed decreased Arden ratios. Review of multimodal imaging of the adult patients revealed a hyper-autofluorescent edge surrounding a serous macular detachment by short-wave autofluorescence and shaggy photoreceptors on the overlying edge of serous detachments by optical coherence tomography. DISCUSSION: Adult-onset bestrophinopathy can be mistaken as CSCR. Multimodal imaging findings, examination of potentially affected family members, electrophysiology, and genetic testing facilitate the correct diagnosis.

Adjunctive Intravitreal Triamcinolone Acetonide for Exudative Retinal Detachment in Coats Disease.

Purpose: This work aims to assess the value of intravitreal triamcinolone acetonide (IVTA) as an adjunctive therapy in advanced Coats disease with exudative retinal detachment (ERD). Methods: A retrospective review was conducted of patients with Coats disease stage 3 or higher who received IVTA to decrease subretinal fluid (SRF), facilitate retinal ablative therapy, and avoid surgical drainage. Primary outcomes were SRF resolution and avoidance of surgical SRF drainage. Results: Seventeen eyes of 17 patients (mean, [SD] age, 3.9 [3.4] years) met the inclusion criteria. ERD configuration was bullous in 7 and shallow in 10 eyes. Following a single IVTA injection, ablative therapy was achieved after a mean (SD) of 2.1 (3.0) weeks. Complete SRF resolution was observed in 13 eyes (76.4%) after a mean of 1.3 IVTA injections and a mean of 2 (SD, 1.27) laser sessions, and none of these eyes required SRF drainage up to last follow-up (mean [SD], 50.5 [26.24] months). In 4 eyes with bullous ERD at presentation, SRF persisted (P = .015) despite additional measures including surgical drainage. Final visual acuity ranged from 20/100 to no light perception. Cataract developed in 12 of the 17 eyes (70.5%). None developed an increase in intraocular pressure at final follow-up. Conclusions: IVTA injection can be a helpful adjunctive modality to address SRF in advanced Coats disease. It may obviate the need to surgically drain SRF to effectively treat the condition, particularly when the ERD is not highly bullous.

Association of Ocular Adverse Events With Inactivated COVID-19 Vaccination in Patients in Abu Dhabi.

Importance: As vaccinations against COVID-19 continue, potential ocular adverse events should be reported in detail to increase awareness among the medical community, although typically, a causal relationship cannot be established definitively. Objective: To describe ocular adverse events that occur soon after receiving an inactivated COVID-19 vaccination (Sinopharm). Design, Setting, and Participants: This case series took place from September 2020 to January 2021 at Cleveland Clinic Abu Dhabi, a tertiary referral center. Patients who reported ocular adverse events and presented within 15 days from the first of 2 doses of an inactivated COVID-19 vaccine were analyzed. Main Outcomes and Measures: Each patient underwent Snellen best-corrected visual acuity that was then converted to logMAR, applanation tonometry, and biomicroscopic examination with indirect ophthalmoscopy. Color fundus photography was obtained with a conventional 9-field fundus photography camera or with a widefield fundus photography system. Optical coherence tomography and optical coherence tomographic angiography images were obtained. Sex, race, age, and clinical data were self-reported. Results: Nine eyes of 7 patients (3 male individuals) presenting with ocular complaints following COVID-19 vaccine were included in the study. The mean (SD) age was 41.4 (9.3) years (range, 30-55 years); the mean best-corrected visual acuity was 0.23 logMAR (range, 0-1 logMAR; approximate Snellen equivalent, 20/32). The mean time of ocular adverse event manifestations was 5.2 days (range, 1-10 days). One patient was diagnosed with episcleritis, 2 with anterior scleritis, 2 with acute macular neuroretinopathy, 1 with paracentral acute middle maculopathy, and 1 with subretinal fluid. Conclusions and Relevance: In this case series study of 7 patients, the timing of transient and ocular complications 5.2 days after vaccination with an inactivated COVID-19 vaccine supported an association with the ocular findings, but a causal relationship cannot be established from this study design.

Focal Scleral Nodule: A New Name for Solitary Idiopathic Choroiditis and Unifocal Helioid Choroiditis.

PURPOSE: To evaluate multimodal imaging findings of solitary idiopathic choroiditis (SIC; also known as unifocal helioid choroiditis) to clarify its origin, anatomic location, and natural course. DESIGN: Multicenter retrospective observational case series. PARTICIPANTS: Sixty-three patients with SIC in 1 eye. METHODS: Demographic and clinical data were collected. Multimodal imaging included color fundus photography, OCT (including swept-source OCT), OCT angiography (OCTA), fundus autofluorescence, fluorescein and indocyanine green angiography, and B-scan ultrasonography. MAIN OUTCOME MEASURES: Standardized grading of imaging features. RESULTS: Mean age at presentation was 56 ± 15 years (range, 12-83 years). Mean follow-up duration in 39 patients was 39 ± 55 months (range, 1 month-25 years). The lesions measured a mean of 2.4 × 2.1 mm in basal diameter, were located inferior (64%) or nasal to the optic disc, and appeared yellow (53%). No systemic associations were found. The lesions all appeared as an elevated subretinal mass, with OCT demonstrating all lesions to be confined to the sclera, not the choroid. On OCT, the deep lesion margin was visible in 12 eyes with a mean lesion thickness of 0.6 mm. Overlying choroidal thinning or absence was seen in 95% (mean choroidal thickness, 28 ± 35 µm). Mild subretinal fluid was observed overlying the lesions in 9 patients (14%). Retinal pigment epithelial disruption and overlying retinal thinning was observed in 56% and 57%, respectively. OCT angiography was performed in 13 eyes and demonstrated associated choroidal and lesional flow voids. Four lesions (6%) were identified at the macula, leading to visual loss in 1 patient. One lesion demonstrated growth and another lesion showed spontaneous resolution. CONCLUSIONS: In this largest series to date, multimodal imaging of SIC demonstrated a scleral location in all patients. The yellow and white clinical appearance may be related to scleral unmasking resulting from atrophy of overlying tissues. Additional associated features included documentation of deep margin on swept-source OCT, trace subretinal fluid in a few patients, and OCTA evidence of lesional flow voids. Because of the scleral location of this lesion in every patient, a new name, focal scleral nodule, is proposed.

Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome.

PURPOSE: To describe the findings and the management of macular hole (MH)-related retinal detachment (RD) in children with Knobloch syndrome. DESIGN: Retrospective interventional case series. PARTICIPANTS: Patients with Knobloch syndrome who presented with MH-related RD. METHODS: Retrospective chart review of patients with Knobloch syndrome who presented with MH-related RD from January 2012 to December 2018. Interventions included pars plana vitrectomy and silicone oil tamponade with or without scleral buckle, drainage retinotomy, or relaxing retinectomy. MAIN OUTCOME MEASURES: MH characteristics and surgical anatomical outcome. RESULTS: The study included 9 eyes of 5 patients (age range 2 months to 5 years; median age 5.5 months). Presenting symptoms were poor fixation and nystagmus. The fellow eye of 1 patient had RD due to peripheral breaks. The MH was clinically visible in 8 eyes and detected only by OCT in 1 eye. The RD was shallow and extended to the anterior equator in 7 eyes and localized to a punched-out atrophic lesion in 1 eye. Seven eyes underwent surgical repair. At the last follow-up examination (follow-up range 11 to 42 months; mean 24 months, standard deviation 11.8 months), retinal reattachment with MH closure was achieved in 5 eyes along with marked improvement in fixation. CONCLUSION: Patients with Knobloch syndrome may develop MH-related RD as early as infancy. The condition may be easily overlooked in children but should be suspected in the setting of high myopia, vitreoretinal degeneration, and encephalocele.

Anti-VEGF Therapy for Persistent Neovascularization after Complete Panretinal Photocoagulation in Proliferative Diabetic Retinopathy.

PURPOSE: To report the rate of new vessel (NV) regression after monthly injections of bevacizumab in laser-treated proliferative diabetic retinopathy (PDR) eyes with persistent neovascularization. DESIGN: Prospective cohort study. PARTICIPANTS: Eyes with PDR with incomplete response to prior complete panretinal photocoagulation (PRP). METHODS: Ninety eyes of 80 patients with persistent PDR (pPDR) despite adequate PRP were prospectively followed on a monthly basis with anti-vascular endothelial growth factor (VEGF) injections when needed and stereo fundus images looking at the regression of NVs. MAIN OUTCOME MEASURES: Regression of NVs. RESULTS: A total of 70 of 90 eyes (77.8%) had regression of the NV. Mean number of injections to reach quiescence was 9±3 for pPDR in the high-risk characteristics (HRC) group (80 eyes) and 3±1 for PDR in the group without HRC (10 eyes) (P < 0.001). All patients with PDR without HRC responded to the adjuvant therapy, whereas 75.0% of the eyes with PDR with HRC responded. Eyes with initial retinal neovascularization all responded to the adjuvant treatment. Eyes without a vitreous hemorrhage at study entry were more likely to respond (odds ratio, 5.43; 95% confidence interval, 1.37-21.44; P < 0.01). Therapy was judged unsuccessful because of the continuous growth of the NV despite treatment (3 eyes), the development of traction (5 eyes), and the development of a dense vitreous hemorrhage (6 eyes). CONCLUSIONS: Anti-VEGF rescue therapy has a potential role in select cases of laser-treated PDR with persistent NVs and no evidence of traction to achieve regression of neovessels.

Delayed spontaneous closure of blue laser-induced full thickness macular hole.

PURPOSE: To report a blue laser-induced full thickness macular hole (FTMH) with delayed spontaneous closure without surgical intervention. OBSERVATIONS: A 14-year old male developed full thickness macular hole after momentary exposure to a high-power handheld blue laser device. The macular hole closed spontaneously over a long period of observation. CONCLUSION: Despite an initial enlargement in size, small FTMH caused by blue lasers may close spontaneously over an extended period of observation.

Cilioretinal artery hypoperfusion and its association with paracentral acute middle maculopathy.

BACKGROUND/AIMS: To study the multimodal imaging findings of a large series of eyes with cilioretinal artery obstruction (CILRAO) and describe the systemic associations. METHODS: Multicentre, retrospective chart review from 12 different retina clinics worldwide of eyes with CILRAO, defined as acute retinal whitening in the distribution of the cilioretinal artery, were identified. The clinical, systemic information and multimodal retinal imaging findings were collected and analysed. RESULTS: A total of 53 eyes of 53 patients with CILRAO were included in the study. In 100% of eyes, fundus photography illustrated deep retinal whitening corresponding to the course of the cilioretinal artery. Twenty-eight patients (52.8%) presented with isolated CILRAO (baseline best-corrected visual acuity (BCVA) 20/50, final BCVA 20/25) associated with nocturnal hypotension, 23 patients (43.4%) with CILRAO secondary to central retinal vein occlusion (CRVO) (baseline BCVA 20/40, final BCVA 20/20) and two patients with CILRAO due to biopsy-proven giant cell arteritis (GCA) (baseline BCVA 20/175, final BCVA 20/75). With spectral domain optical coherence tomography (SD-OCT), a hyper-reflective band involving the inner nuclear layer (ie, paracentral acute middle maculopathy or PAMM) was noted in 51 eyes (28/28 eyes with isolated CILRAO and 23/23 eyes with CILRAO+CRVO) corresponding to the retinal whitening. In the two eyes with CILRAO+GCA, SD-OCT illustrated hyper-reflective ischaemia of both the middle and inner retina. CONCLUSIONS: Isolated CILRAO and CILRAO secondary to CRVO are the result of hypoperfusion or insufficiency, rather than occlusion, of the cilioretinal artery and are associated with PAMM or selective infarction of the the inner nuclear layer. With GCA, there is complete occlusion of the cilioretinal artery producing ischaemia involving both the middle and inner retina associated with worse visual outcomes.

Early diabetic retinopathy diagnosis based on local retinal blood vessel analysis in optical coherence tomography angiography (OCTA) images.

PURPOSE: This paper introduces a new computer-aided diagnosis (CAD) system for detecting early-stage diabetic retinopathy (DR) using optical coherence tomography angiography (OCTA) images. METHODS: The proposed DR-CAD system is based on the analysis of new local features that describe both the appearance and retinal structure in OCTA images. It starts with a new segmentation approach that has the ability to extract the blood vessels from superficial and deep retinal OCTA maps. The high capability of our segmentation approach stems from using a joint Markov-Gibbs random field stochastic model integrating a 3D spatial statistical model with a first-order appearance model of the blood vessels. Following the segmentation step, three new local features are estimated from the segmented vessels and the foveal avascular zone (FAZ): (a) vessels density, (b) blood vessel calibre, and (c) width of the FAZ. To distinguish mild DR patients from normal cases, the estimated three features are used to train and test a support vector machine (SVM) classifier with the radial basis function (RBF) kernel. RESULTS: On a cohort of 105 subjects, the presented DR-CAD system demonstrated an overall accuracy (ACC) of 94.3%, a sensitivity of 97.9%, a specificity of 87.0%, the area under the curve (AUC) of 92.4%, and a Dice similarity coefficient (DSC) of 95.8%. This in turn demonstrates the promise of the proposed CAD system as a supplemental tool for early detection of DR. CONCLUSION: We developed a new DR-CAD system that is capable of diagnosing DR in its early stage. The proposed system is based on extracting three different features from the segmented OCTA images, which reflect the changes in the retinal vasculature network.

Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.

PURPOSE: The purpose of this study is to uncover the genetic cause for non-syndromic macular "coloboma" (pseudocoloboma) in three brothers from a consanguineous family. METHODS: Homozygosity mapping for the three affected brothers and whole-exome sequencing in one affected brother, followed by confirmatory Sanger sequencing and segregation analysis of the candidate gene for all immediate family members; molecular modeling of the candidate mutation; and review of clinical, imaging, and laboratory findings. RESULTS: Three otherwise-healthy brothers (age 10, 10, and 6 years) had macular pseudocoloboma. Both parents and the fourth brother were not affected. Parents were first cousins. A novel homozygous missense variant in claudin 19 (CLND19: NM_148960.2:c. 263T>A; p.Val88Glu) segregated with the phenotype, and molecular modeling predicts an unfavorable effect to protein function. All prior reported biallelic CLND19 mutations cause symptomatic hypomagnesemia with hypercalciuria and nephrocalcinosis, often with concurrent macular pseudocoloboma. However, general physical assessment, metabolic profile, and renal imaging for the three affected brothers were normal. CONCLUSIONS: A homozygous CLDN19 mutation can cause macular pseudocoloboma without evidence for systemic disease in children. This is the first reported family with CLDN19 mutations to have an ocular phenotype only; however, those identified to harbor biallelic CLDN19 mutations should be considered at risk for the extraocular manifestations that have previously been associated with mutations in the gene.

Comparison between Nonmydriatic Spectral Domain Optical Coherence Tomography and Conventional Ophthalmologic Examination in Detecting Adult Macular Pathology.

OBJECTIVE: To compare nonmydriatic spectral domain optical coherence tomography (NMOCT) to comprehensive ophthalmologic evaluation (COE) in detecting adult macular abnormalities. METHODS: This is a single-reader observational pilot study of adults older than 50 years with no known ophthalmologic problems to assess the correlation between NMOCT and COE in detecting macular abnormalities classified as epiretinal, intraretinal, subretinal, or a combination thereof. Subjects underwent NMOCT of the macula followed by COE which included a dilated fundus examination and ancillary tests as needed. RESULTS: A total of 771 eyes of 406 patients were included. Cohen's kappa coefficient of agreement between NMOCT and COE for detecting any abnormality was high (0.90, p < 0.0001), with NMOCT having an overall sensitivity of 82.65% and specificity of 98.97%. Sensitivities and specificities of NMOCT in detecting each category of macular abnormalities were as follows: epiretinal (86.36%, 99.73%), intraretinal (80.00%, 99.58%), and subretinal (88.89%, 99.73%), respectively. CONCLUSION: NMOCT is a promising tool for detecting adult macular abnormalities.

Changing Trends in Eye-Related Complaints Presenting to the Emergency Department in Beirut, Lebanon, over 15 Years.

OBJECTIVE: To report the 15-year trend in ophthalmic presentations to the emergency department (ED) at the only medical center in Lebanon that provides 24-hour ophthalmologic care. METHODS: Retrospective review of 1967 patients presenting to the ED with eye-related complaints between September 1997 and August 1998 and between September 2012 and August 2013. Diagnoses were classified into 4 categories according to the International Society of Ocular Trauma and include penetrating eye injuries, nonpenetrating eye trauma, nontraumatic ophthalmic emergencies, and nontraumatic, nonurgent ophthalmic conditions. RESULTS: One thousand sixty eye-related presentations out of 39,158 total ED visits (2.71%) presented in 1997 compared to 907 out of 46,363 in 2012 (1.96%). Penetrating and nonpenetrating eye emergencies decreased between 1997 and 2012 (7.17% to 4.19%, p = 0.003 and 52.64% to 29.00%, p < 0.001, resp.) while nonurgent cases increased from 30.19% to 53.47% (p < 0.001). 57% of patients were covered by third-party guarantors in 1997 versus 73% in 2012. CONCLUSION: Our results demonstrate a significant increase in nonurgent cases in parallel with the proportion of third-party payers, an issue to be addressed by public health policies and proper resource allocation. A detailed nationwide review is needed to make solid recommendations for the management of ophthalmologic presentations in the ED.

Congenital Retinal Macrovessel and the Association of Retinal Venous Malformations With Venous Malformations of the Brain.

Importance: Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain. Objective: To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessel and describe the systemic associations. Design, Setting, and Participants: In this cross-sectional multicenter study, medical records were retrospectively reviewed from 7 different retina clinics worldwide over a 10-year period (2007-2017). Patients with CRM, defined as an abnormal, large, macular vessel with a vascular distribution above and below the horizontal raphe, were identified. Data were analyzed from December 2016 to August 2017. Main Outcomes and Measures: Clinical information and multimodal retinal imaging findings were collected and studied. Pertinent systemic information, including brain magnetic resonance imaging findings, was also noted if available. Results: Of the 49 included patients, 32 (65%) were female, and the mean (SD) age at onset was 44.0 (20.9) years. A total of 49 eyes from 49 patients were studied. Macrovessel was unilateral in all patients. Color fundus photography illustrated a large aberrant dilated and tortuous retinal vein in all patients. Early-phase frames of fluorescein angiography further confirmed the venous nature of the macrovessel in 40 of 40 eyes. Optical coherence tomography angiography, available in 17 eyes (35%), displayed microvascular capillary abnormalities around the CRM, which were more evident in the deep capillary plexus. Of the 49 patients with CRM, 39 (80%) did not illustrate any evidence of ophthalmic complications. Ten patients (20%) presented with retinal complications, typically an incidental association with CRM. Twelve patients (24%) were noted to have venous malformations of the brain with associated magnetic resonance imaging. Of these, location of the venous anomaly in the brain was ipsilateral to the CRM in 10 patients (83%) and contralateral in 2 patients (17%), mainly located in the frontal lobe in 9 patients (75%). Conclusions and Relevance: Our study has identified an association between macrovessels in the retina and venous anomalies of the brain (24% compared with 0.2% to 6.0% in the normal population). Thus, we recommend new guidelines for the systemic workup of patients with CRM to include brain magnetic resonance imaging with contrast. These lesions may be more accurately referred to as retinal venous malformations, which may raise awareness regarding potential cerebral associations.

Retracted: Early diabetic retinopathy diagnosis based on local retinal blood vessels analysis in optical coherence tomography angiography (OCTA) images.

The above article from Medical Physics, published online on 22 February 2018 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the authors, the journal Editor in Chief and John Wiley & Sons Ltd. The retraction has been agreed following an investigation carried out by the editors due to major overlap with a previously published article: British Journal of Ophthalmology (BJO) (Sandhu HS, Eladawi N, Elmogy M, et al Automated diabetic retinopathy detection using optical coherence tomography angiography: a pilot study, British Journal of Ophthalmology Published Online First: 23 January 2018. doi:10.1136/bjophthalmol-2017-311489.

The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.

INTRODUCTION: Biallelic mutations in low-density lipoprotein-related protein 2 (LRP2) cause the multi-system Donnai-Barrow syndrome (facio-oculo-acoustico-renal syndrome). Although Donnai-Barrow syndrome is recognized as a form of vitreo-retinopathy, the ocular phenotype has not been well defined. The purpose of this study is to document the disk and peripapillary appearance in Donnai-Barrow syndrome. METHODS: Retrospective cases series (five children with low vision from a consanguineous Emirati family known to harbor LRP2 mutation (NM_004525.2: c.7564T>C; p.Y42522H)). RESULTS: All five children had high myopia (spherical equivalent from -15 to -22). One had an ophthalmic phenotypic pathognomonic for Knobloch syndrome, and genetic testing confirmed a homozygous novel COL18A1 mutation (NM_130455.3: c.2978_2987del; p.Pro993Leufs*35) with heterozygosity for the LRP2 mutation. The other four children, confirmed to be homozygous for the LRP2 mutation, had hypertelorism and down-slanting palpebral fissures. Three had spontaneous retinal detachment (two bilateral and one unilateral) with complicated post-surgical courses following retinal detachment repair. The three eyes (two children) without retinal detachment had a consistent unique optic nerve head appearance, with thin emanating vessels and multiple rings of depigmentation that made it difficult to discern the edge of the apparently small and recessed neuroretinal rim. This distinct appearance was also present in the post-surgical eyes which were not phthisical and seemed present in the single published posterior pole image found during literature review. CONCLUSIONS: A distinctive optic nerve head dysgenesis is part of Donnai-Barrow syndrome and can help distinguish its ocular phenotype from other vitreo-retinopathies associated with high myopia.

Fundus autofluorescence imaging in hereditary retinal diseases.

Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to non-invasively map changes at the level of the retinal pigment epithelium (RPE)/photoreceptor complex and alterations of macular pigment distribution. This imaging method is based on the visualization of intrinsic fluorophores and may be easily and rapidly used in routine patient care. Excessive accumulation of lipofuscin granules in the lysosomal compartment of RPE cells represents a common downstream pathogenic pathway in various hereditary and complex retinal diseases. The clinical applications of FAF continue to expand. It is now an essential tool for evaluating macular dystrophies and various hereditary retinal disorders. Fundus autofluorescence (FAF) may detect abnormalities beyond those detected on funduscopic examination, fluorescein angiography (FA) or optical coherence tomography (OCT). Fundus autofluorescence (FAF) imaging is particularly helpful for differential diagnosis, detection and extent delineation of involved retinal areas, genotype-phenotype correlations and monitoring of changes overtime. Given its ease of use, non-invasive nature and value in characterizing retinal disease, FAF enjoys increasing clinical relevance. This review summarizes basic principles and FAF findings in various hereditary retinal diseases.