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.

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.

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.

MERTK is an essential component of the signaling network that controls phagocytosis in retinal pigment epithelium (RPE), the loss of which results in photoreceptor degeneration. Previous proof-of-concept studies have demonstrated the efficacy of gene therapy using human MERTK (hMERTK) packaged into adeno-associated virus (AAV2) in treating RCS rats and mice with MERTK deficiency. The purpose of this study was to assess the safety of gene transfer via subretinal administration of rAAV2-VMD2-hMERTK in subjects with MERTK-associated retinitis pigmentosa (RP). After a preclinical phase confirming the safety of the study vector in monkeys, six patients (aged 14 to 54, mean 33.3 years) with MERTK-related RP and baseline visual acuity (VA) ranging from 20/50 to <20/6400 were entered in a phase I open-label, dose-escalation trial. One eye of each patient (the worse-seeing eye in five subjects) received a submacular injection of the viral vector, first at a dose of 150 µl (5.96 × 10(10)vg; 2 patients) and then 450 µl (17.88 × 10(10)vg; 4 patients). Patients were followed daily for 10 days at 30, 60, 90, 180, 270, 365, 540, and 730 days post-injection. Collected data included (1) full ophthalmologic examination including best-corrected VA, intraocular pressure, color fundus photographs, macular spectral domain optical coherence tomography and full-field stimulus threshold test (FST) in both the study and fellow eyes; (2) systemic safety data including CBC, liver and kidney function tests, coagulation profiles, urine analysis, AAV antibody titers, peripheral blood PCR and ASR measurement; and (3) listing of ophthalmological or systemic adverse effects. All patients completed the 2-year follow-up. Subretinal injection of rAAV2-VMD2-hMERTK was associated with acceptable ocular and systemic safety profiles based on 2-year follow-up. None of the patients developed complications that could be attributed to the gene vector with certainty. Postoperatively, one patient developed filamentary keratitis, and two patients developed progressive cataract. Of these two patients, one also developed transient subfoveal fluid after the injection as well as monocular oscillopsia. Two patients developed a rise in AAV antibodies, but neither patient was positive for rAAV vector genomes via PCR. Three patients also displayed measurable improved visual acuity in the treated eye following surgery, although the improvement was lost by 2 years in two of these patients. Gene therapy for MERTK-related RP using careful subretinal injection of rAAV2-VMD2-hMERTK is not associated with major side effects and may result in clinical improvement in a subset of patients.

CLINICAL CHARACTERISTICS AND TREATMENT OUTCOMES OF COATS DISEASE IN A SAUDI ARABIAN POPULATION.

PURPOSE: To present the clinical aspects and treatment outcomes of Coats disease in Saudi Arabia. METHODS: A retrospective chart review was performed of 92 patients (97 eyes) diagnosed with Coats disease at King Khalid Eye Specialist Hospital from 1983 to 2010. RESULTS: The most common presenting complaint was decreased visual acuity followed by strabismus and then leukocoria. Snellen visual acuity was 20/20 to 20/50 in 9 eyes (9%), 20/50 to 20/160 in 11 eyes (11%), 20/200-counting fingers in 29 eyes (30%), and hand motion to no light perception in 24 eyes (25%). Telangiectasia was located in the preequatorial area in 71 eyes (73%) and most commonly involved the temporal retina in 67 eyes (69%). In eyes with clear view to the fundus, quadrant involvement by telangiectasia had the following distribution: 1) quadrant (n = 36, 37%); 2) quadrants (n = 26, 27%); 3) quadrants (n = 8, 8%); and 4 quadrants (n = 15, 15%). Total retinal detachment was present at presentation in 28 eyes (29%) and neovascular glaucoma in 8 (8%). Based on the Shields classification, the eyes were Stage 1 (n = 1, 1%), Stage 2A (n = 7, 7%), Stage 2B (n = 23, 24%), Stage 3A1 (n = 26, 27%), Stage 3A2 (n = 12, 12%), Stage 3B (n = 16, 17%), Stage 4 (n = 11, 11%), and Stage 5 (n = 5, 1%). Stage 3A was the most commonly presented stage (39%). Primary management included cryotherapy (19%), laser photocoagulation (64%), intravitreal agents (9%), and surgical drainage (4%). Combination treatment was performed in 29% of eyes. Thirteen eyes (13%) were enucleated because of clinical suspicion of retinoblastoma or the presence of glaucoma. Factors that were associated with a poor visual outcome of 20/200 or worse included age less than 10 years (relative risk: 1.27), Stages 3 and 4 disease (relative risk: 1.40), presence of subretinal fluid in all 4 quadrants including the fovea (relative risk: 14.25), and initial visual acuity of 20/200 (relative risk: 6.72) or worse (P < 0.005 for all factors). CONCLUSION: Although rare, Coats disease is usually advanced at presentation and has a poor visual prognosis in the Saudi population, like in other populations. The findings of this study give validity and applicability to the Shields staging scheme, which we recommend using in clinical practice.

Intraocular pressure trends after intravitreal injections of anti-vascular endothelial growth factor agents for diabetic macular edema.

PURPOSE: To study intraocular pressure (IOP) trends and risk factors of IOP elevation after intravitreal anti-vascular endothelial growth factor injections in diabetic macular edema. METHODS: A retrospective review of 760 eyes treated with intravitreal anti-vascular endothelial growth factor injections for diabetic macular edema was performed. The rate and risk factors of IOP elevation were assessed. Intraocular pressure elevation was defined as an increase above baseline IOP by ≥ 6 mmHg, increase above baseline by > 20%, or IOP elevation to > 24 mmHg on 2 or more consecutive visits after treatment. When more than one pretreatment IOP reading was available, baseline IOP was calculated as the mean of the available pretreatment IOP readings (up to a maximum of three last IOP readings). Intraocular pressure elevation was considered transient unless it was maintained throughout the follow-up or required treatment (persistent elevation). RESULTS: Over a mean follow-up of 18 months, persistent and transient IOP elevation occurred in 44 (5.8%) and 53 (7%) eyes, respectively. The majority of eyes with persistent IOP elevation (70.4%) showed IOP elevation of > 20% from baseline. Only 13 eyes (1.71%) met the more strict criteria (> 6 mmHg from baseline or an IOP elevation > 24 mmHg). Final IOP was higher in the persistent IOP elevation group than the rest of the eyes (P < 0.001). Only the number of injections was associated with IOP elevation (P < 0.001). CONCLUSION: Persistent IOP elevation after intravitreal anti-vascular endothelial growth factor injections for diabetic macular edema is uncommon but may be associated with a higher number of injections.

High-power handheld blue laser-induced maculopathy: the results of the King Khaled Eye Specialist Hospital Collaborative Retina Study Group.

PURPOSE: To report various types of maculopathy caused by momentary exposure to a high-power handheld blue laser. DESIGN: Consecutive case series. PARTICIPANTS: Fourteen eyes of 14 patients. METHODS: Patients with a history of eye exposure to a blue laser device (450 nm and a power range of 150-1200 mW) to a single institution were included. Evaluation included a full ophthalmic examination, fundus photography, macular spectral-domain optical coherence tomography, and fundus fluorescein angiography. MAIN OUTCOME MEASURES: Analysis of the types of maculopathy and vitreoretinal pathologic features. RESULTS: All patients were young males. The most common setting for injury was accidental at play. The types of maculopathies encountered were: a full-thickness macular hole (FTMH) in 4 eyes, a premacular subhyaloid hemorrhage in 5 eyes, premacular sub-internal limiting membrane hemorrhage in 2 eyes, an outer retinal disruption at the fovea in 1 eye, an epimacular membrane in 1 eye, and a schisis-like cavity in 1 eye. Best-corrected Snellen visual acuity at presentation ranged from 20/40 to 4/200 (mean, 20/290). Only 4 eyes (29%) improved spontaneously with increase in vision, whereas 10 eyes (71%) required intervention. The latter consisted of neodymium:yttrium-aluminum-garnet hyaloidotomy in the 5 eyes with subhyaloid hemorrhage and pars plana vitrectomy (PPV) for the eyes with FTMH and epimacular membrane. All 4 FTMH were closed successfully after PPV. Final mean best-corrected visual acuity in all cases was 20/35 (range, 20/15-20/300). CONCLUSIONS: Exposure to high-power handheld laser devices can cause a variety of maculopathies that can reduce central vision permanently. Although vision may improve spontaneously, most cases require intervention. Unrestricted access to commercially available high-power handheld laser devices is dangerous and public awareness should be encouraged.

Spectral domain optical coherence tomography predictors of visual outcome in diabetic cystoid macular edema after bevacizumab injection.

PURPOSE: To study prognostic spectral domain optical coherence tomography parameters in diabetic cystoid macular edema after anti-vascular endothelial growth factor therapy. METHODS: Retrospective cohort study included 49 eyes with the new onset diabetic cystoid macular edema that had to have a macular spectral domain optical coherence tomography and fluorescein angiography at presentation. The baseline optical coherence tomography scans were analyzed for variables indicative of the extent of retinal involvement by the cystoid change and its location about the center. Univariate and multivariate analyses were performed comparing the optical coherence tomography findings between the two groups of eyes: the "No improvement" and the "Improvement" groups, based on at least two Snellen lines improvement after treatment. RESULTS: There were 30 and 19 eyes in the No improvement and Improvement groups, respectively. In the univariate analysis, the baseline optical coherence tomography parameters associated with visual improvement included the photoreceptor inner segments thickness centrally (P = 0.009) and within the central 1-mm subfield (P < 0.0001), and the presence of bridging retinal processes centrally (P = 0.004). Multivariate analysis showed both presence and central location of bridging retinal processes within the central 1-mm subfield to be significantly associated with visual improvement (P = 0.041 and 0.005, respectively), with an odds ratio of 13.4 (95% confidence interval, 1.336-636.18; P = 0.010) for their central location. CONCLUSION: In diabetic cystoid macular edema, visual improvement after anti-vascular endothelial growth factor therapy is more likely to occur in eyes with residual central retinal processes on baseline macular spectral domain optical coherence tomography. This finding may be helpful in patient counseling, case selection, and clinical trial planning.

The posterior pole and papillomacular fold in posterior microphthalmos: novel spectral-domain optical coherence tomography findings.

PURPOSE: To report and analyze the spectral-domain optical coherence tomography (SD-OCT) features of the posterior pole and papillomacular fold (PMF) in posterior microphthalmos (PM) in relation to axial length of the globe and corneal power. DESIGN: Comparative case series. PARTICIPANTS: Forty eyes of 20 PM patients and 70 eyes of 35 age-matched controls. METHODS: All PM and control eyes underwent a full biometric evaluation, including axial length and corneal power measurements, and macular SD-OCT. In addition, a novel SD-OCT marker of the posterior pole curvature, termed the posterior pole curvature index (PPCI), was measured along both the vertical and horizontal meridians. The OCT characteristics of the PMF were analyzed and the PPCIs were compared and correlated with the axial length and corneal power in both groups of eyes, and with the PMF severity in PM eyes. MAIN OUTCOME MEASURES: We considered the SD-OCT features of the PMF, the PPCI in PM eyes and controls, and the correlations between PPCI and PMF severity and axial length. RESULTS: All PMFs were predominantly horizontal and partial thickness, sparing the outer retina except the outer plexiform layer. The PPCI in PM eyes (mean ± standard deviation, 145±40.3 microns; median, 144) was significantly larger than that of controls (14±12.8 microns; median, 14; P<0.0001). In addition, the vertical PPCI in PM eyes, but not in controls, was notably larger than the horizontal PPCI (mean difference, 55±30.4 microns; P<0.0001). In PM eyes, the PPCI strongly correlated with PMF height (R = 0.68; P<0.0001), inverse axial length (R = -0.71; P<0.0001), and corneal power (R = 0.49; P = 0.002), and the PMF height correlated strongly and inversely with the axial length (R = -0.62; P<0.0001). CONCLUSIONS: The PMF in PM eyes has characteristic morphologic SD-OCT features. The increased posterior pole curvature in PM and its significant correlation with the axial length, the PMF severity and keratometry established in this study suggest that PM eyes are not only shorter than normal, but seem to be abnormally shaped posteriorly, particularly along the vertical meridian. This factor may play a role in the pathogenesis and morphology of the PMF. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any of the materials discussed in this article.

A modified ultrasound-guided surgical technique for the management of the uveal effusion syndrome in patients with normal axial length and scleral thickness.

PURPOSE: The purpose of this study was to describe a modified surgical technique for the management of the uveal effusion syndrome (UES). METHODS: A consecutive interventional case series of six eyes with UES is reported. The diagnosis of the UES was based on detailed ophthalmic examination, fluorescein angiography, B-scan ultrasonography, biometry, and magnetic resonance imaging. All eyes underwent an ultrasound-guided placement of the sclerostomies subjacent to the area of maximal choroidal swelling using a scleral punch without scleral flaps or vortex vein decompression. RESULTS: All patients were men with a mean age of 53 years. The mean postoperative follow-up was 16.25 months. Five eyes had normal axial lengths (22.54-23.05 mm) by ultrasound and normal sclera thickness on magnetic resonance imaging. One eye had a shorter axial length (21.65 mm) and mild scleral thickening on magnetic resonance imaging. All six eyes had anterior peripheral choroidal swelling. Three eyes had associated serous retinal detachment, and three eyes had acute appositional angles. After surgery, five eyes had total resolution of the peripheral choroidal swelling and retinal detachment or normalization of the angle. One eye had partial resolution of the retinal detachment. Of the three eyes with retinal detachment, two eyes experienced improvement in visual acuity after surgery. No complications were noted. CONCLUSION: This modified ultrasound-guided surgical technique for sclerostomy placement seems to be effective in the management of the UES, including eyes with normal axial length and scleral thickness, a subset of the UES that has been previously reported not to respond to surgery.

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.

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.

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.

A conjunctival lesion with histological features similar to large-cell acanthoma of the skin.

Large-cell acanthoma (LCA) is a sharply demarcated epidermal lesion composed of large keratinocytes and characterized by hyperkeratosis, hypergranulosis and orthokeratosis. It usually affects actinically damaged skin. LCA is currently believed to be a distinct entity with an unclear pathogenesis and a benign biologic behavior. Here, we describe the first occurrence of LCA in the conjunctiva. The lesion recurred following initial excision, and later recurred as a carcinoma in situ following a second excision. This case suggests that LCA may have a malignant and transformation potential.

Comparison of macular optical coherence tomography findings between postacute retinal artery occlusion and nonacute optic neuropathy.

PURPOSE: The purpose of this study was to report differentiating optical coherence tomography (OCT) findings between postacute retinal arterial occlusion (PARAO) and nonacute optic neuropathy (NAON). METHODS: A retrospective observational comparative study included 17 eyes with postacute permanent retinal arterial occlusion and 32 eyes with NAON whose assessment included a fast macular Status OCT. The macular OCT changes in the postacute phase of central retinal arterial occlusion and branch retinal arterial occlusion were, respectively, compared with those in diffuse and segmental NAON in an effort to establish differentiating features. The findings were used in the workup of four additional consecutive cases referred with suspected NAON. RESULTS: Three main features differentiating PARAO from NAON were identified on macular OCT. Complete inner retinal atrophy with loss of the normal stratification of the inner retinal layers, loss of the normal foveal depression, and marked thinning of the involved retina were characteristic findings of PARAO and were absent even in the most severe cases of NAON. The involved retina was significantly thinner in PARAO compared with that in NAON (P < 0.05). These OCT features helped establish the diagnosis of PARAO in four additional consecutive cases referred with the misdiagnosis of NAON. CONCLUSION: The extent and pattern of inner retinal atrophy differentiate PARAO from NAON and help guide the systemic workup.

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.

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.

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.