Dynamics of Treatment Response to Faricimab for Diabetic Macular Edema.

This study analyzes the dynamics of short-term treatment response to the first intravitreal faricimab injection in eyes with diabetic macular edema (DME). This retrospective, single-center, clinical trial was conducted at the Department of Ophthalmology, University Hospital Zurich. Patients with treatment-naïve and pretreated DME were included. Patient chart data and imaging were analyzed. Safety and efficacy (corrected visual acuity (CVA), central subfield thickness (CST), and signs of intraocular inflammation (IOI)) of the first faricimab intravitreal therapy (IVT) were evaluated weekly until 4 weeks after injection. Forty-three eyes (81% pretreated) of 31 patients were included. Four weeks after the first faricimab IVT, CVA remained stable and median CST (µm) decreased significantly (p < 0.001) from 325.0 (293.5-399.0) at baseline to 304.0 (286.5-358.0). CVA at week 4 was only associated with baseline CVA (p < 0.001). CST was the only predictive variable (p = 0.002) between baseline and week 4 CST. Weekly safety assessments did not show any sign of clinically significant IOI. This study suggests faricimab is an effective treatment for (pretreated) DME, showing structural benefit 1 month following the first injection without short-term safety signals.

Sterile Intraocular Inflammation Associated With Faricimab.

Importance: Randomized clinical trials are conducted to establish both drug safety and efficacy. However, evidence of adverse events associated with these drugs in the clinical practice setting can be of value at generating hypotheses regarding less common safety issues, even if causality cannot be determined. Objective: To present and analyze cases of intraocular inflammation associated with faricimab therapy in patients referred to a single European institution. Design, Setting, and Participants: This was a review starting in April of 2024 of an observational case series. Patients were from a single academic-based tertiary referral center in Switzerland. Included in the analysis were patients referred for intraocular inflammation soon after receiving a faricimab intravitreal injection between June 1, 2022, and March 5, 2024. Exposure: Faricimab, 6 mg (0.05 mL of a 120-mg/mL solution), administrated for neovascular age-related macular degeneration or diabetic macular edema. Main Outcomes and Measures: The systemic and ocular histories and imaging data available were reviewed. The following were evaluated: visual acuity measured with habitual correction using the Early Treatment of Diabetic Retinopathy Study charts before and after the event; intraocular pressure; patient symptoms; anterior, intermediate, or posterior location of the intraocular inflammation; and the presence of retinal vasculitis. Multimodal imaging including color fundus photographs, fluorescein angiograms, indocyanine green angiograms, and optical coherence tomography were reviewed. Results: A total of 12 eyes from 7 patients (mean [SD] age, 73.3 [16.7] years; 4 female [57.1%]) over 22 months were identified as having noninfectious intraocular inflammation after intravitreal faricimab injections. Among these cases, in 2 eyes, retinal vasculitis was present together with anterior and posterior inflammation. One of the 2 eyes had an occlusive form of vasculitis of the arteries and veins, leading to subsequent macular capillary nonperfusion and clinically relevant irreversible vision deterioration from 20/80 to 20/2000. The remaining eyes were characterized by moderate anterior segment inflammation without substantial vision changes. The intraocular inflammation event occurred after a median (IQR) of 3.5 (2.0-4.3) faricimab injections. The median (IQR) interval between the last faricimab injection and the diagnosis of inflammation was 28 (24-38) days. Increased intraocular pressure of 30 mm Hg or higher was found in 3 eyes. Conclusions and Relevance: This case series highlights the occurrence of rare, but potentially severe, intraocular inflammation associated with faricimab therapy. Although these findings do not prove causality and can only generate hypotheses for future investigations, these results suggest the importance of continuous surveillance and monitoring for patients undergoing faricimab therapy to promptly identify and manage potential adverse events.

Real-World Weekly Efficacy Analysis of Faricimab in Patients with Age-Related Macular Degeneration.

Objectives: This study entailed a weekly analysis of real-world data (RWD) on the safety and efficacy of intravitreal (IVT) faricimab in neovascular age-related macular degeneration (nAMD). Methods: A retrospective, single-centre clinical trial was conducted at the Department of Ophthalmology, University Hospital Zurich, University of Zurich, Switzerland, approved by the Cantonal Ethics Committee of Zurich, Switzerland. Patients with nAMD were included. Data from patient charts and imaging were analysed. The safety and efficacy of the first faricimab injection were evaluated weekly until 4 weeks after injection. Results: Sixty-three eyes with a complete 4-week follow-up were enrolled. Six eyes were treatment-naïve; fifty-seven eyes were switched to faricimab from another treatment. Neither group showed signs of retinal vasculitis during the 4 weeks after injection. Central subfield thickness (CST) and volume (CSV) showed a statistically significant decrease compared to the baseline in the switched group (CST: p = 0.00383; CSV: p = 0.00702) after 4 weeks. The corrected visual acuity returned to the baseline level in both groups. The macular neovascularization area decreased in both groups, but this was not statistically significant. A complete resolution of sub- and intraretinal fluid after 4 weeks was found in 40% (switched) and 75% (naïve) of the treated patients. Conclusions: The weekly follow-ups reflect the structure-function relationship beginning with a fast functional improvement within two weeks after injection followed by a return to near-baseline levels after week 3. The first faricimab injection in our cohort showed a high safety profile and a statistically significant reduction in macular oedema in switched nAMD patients.

Vitamin A deficiency retinopathy related to medical interventions in a Swiss cohort: a case series.

AIMS OF THE STUDY: Vitamin A deficiency retinopathy is a potentially blinding disease. In developed countries, vitamin A deficiency due to malnutrition is rare. However, vitamin A deficiency can be caused by malabsorption resulting from bowel resection or medication. In this retrospective study, we present five cases of vitamin A deficiency retinopathy related to malabsorption secondary to medical interventions. METHODS: Electronic charts over a ten-year period (2012-2022) were screened for vitamin A deficiency retinopathy. Only patients with vitamin A deficiency confirmed by laboratory tests were included. Symptoms, medical history, visual acuity, optical coherence tomography, fundus autofluorescence, electrophysiological examination, and vitamin A levels were reviewed. RESULTS: Five eligible cases were identified. Median age was 44.7 years (range 22.2-88.9), median duration of ocular symptoms prior to diagnosis was 14 months, and median visual acuity was 1.0 (range 0.5-1.0, Snellen, decimal). Three patients had a history of bariatric surgery, one patient had a small bowel resection and was on octreotide treatment, and one patient suffered from cystic fibrosis and had a history of small bowel resection and severe hepatopathy. Optical coherence tomography showed various abnormalities, including a reduced interdigitation zone, subretinal drusenoid deposits, and a thinned outer nuclear layer. Electroretinogram findings ranged from abnormal oscillatory potentials to non-recordable rod responses. CONCLUSIONS: Vitamin A deficiency retinopathy can occur following medical interventions associated with malabsorption. In cases of night blindness, vitamin A levels should be measured.

Assessment of Retinal Vessel Tortuosity Index in Patients with Fabry Disease Using Optical Coherence Tomography Angiography (OCTA).

Vessel tortuosity (VT) is a parameter used to assess retinal involvement in patients affected by systemic diseases such as Fabry disease (FD). In this study, we assessed a retinal VT index (VTI) using optical coherence tomography angiography (OCTA) in a group of patients with FD (FD cohort) compared to a healthy control group (HC cohort). This is a single-center, retrospective study analysis of all consecutive patients with genetically tested and confirmed FD who underwent regular ophthalmological visits from December 2017 to January 2020 at the Department of Ophthalmology at the University Hospital of Zurich, Switzerland. VTI was calculated for each OCTA image and the results were compared between FD and HC cohort. A total of 56 participants, 32 (male:female ratio 12:20) in the FD cohort and 24 (male:female ratio 13:11) in the HC cohort. Classic onset was determined in 18 patients. Overall, mean VTI (±SD) was 0.21 (±0.07). Male patients with classic-onset FD had a significantly higher mean VTI (0.33, SD ± 0.35) compared to all other subgroups (p-value < 0.05). Further investigations of retinal VTI in patients with FD could be helpful to use OCTA as a noninvasive screening and follow-up modality to assess disease progression in affected patients.

OPTIC DISK PIT ASSOCIATED WITH AN UNUSUAL OUTER RETINAL HOLE AND NASAL PERIPHERAL RETINOSCHISIS.

PURPOSE: To document a peculiar case of optic disk pit-associated maculopathy with extensive nasal retinoschisis with lamellar outer retinal hole. METHODS: A 41-year-old woman presented to the eye clinic complaining of new photopsias and enlargement of the blind spot in the left eye. Uncorrected visual acuity was 20/20 in both eyes. Fundus examination of the left eye revealed an anomalous appearing optic nerve with a gray oval depression at the temporal margin of the disk consistent with an optic disk pit. RESULTS: Optical coherence tomography confirmed the presence of the pit and demonstrated outer plexiform layer schisis superonasal to the fovea and extensive inner and outer retinal schisis nasal to the nerve extending to the equator. A large lamellar outer retinal hole was noted nasal to the disk without associated retinal detachment. The vitreous appeared to be attached over the nasal retina. CONCLUSION: Multimodal imaging revealed an unusual optic disk pit-associated retinopathy with dramatically more extensive retinoschisis and a lamellar outer retinal hole nasal to the nerve despite the temporal location of the pit. Although the precise pathophysiologic mechanisms are not fully understood, forces associated with the vitreo-retinal adhesion may have contributed to the distribution of the schisis in this case.

Macular neovascularization lesion type and vision outcomes in neovascular age-related macular degeneration: post hoc analysis of HARBOR.

PURPOSE: To characterize relationships between Consensus on Neovascular Age-Related Macular Degeneration Nomenclature (CONAN) Study Group classifications of macular neovascularization (MNV) and visual responses to ranibizumab in patients with neovascular age-related macular degeneration (nAMD). METHODS: This was a post hoc analysis of the phase 3 HARBOR trial of ranibizumab in nAMD. Analyses included ranibizumab-treated eyes with baseline multimodal imaging data; baseline MNV; subretinal and/or intraretinal fluid at screening, baseline, or week 1; and spectral-domain optical coherence tomography images through month 24 (n = 700). Mean best-corrected visual acuity (BCVA) over time and mean BCVA change at months 12 and 24 were compared between eyes with type 1, type 2/mixed type 1 and 2 (type 2/M), and any type 3 MNV at baseline. RESULTS: At baseline, 263 (37.6%), 287 (41.0%), and 150 (21.4%) eyes had type 1, type 2/M, and any type 3 lesions, respectively. Type 1 eyes had the best mean BCVA at baseline (59.0 [95% CI: 57.7-60.3] letters) and month 24 (67.7 [65.8-69.6] letters), whereas type 2/M eyes had the worst (50.0 [48.6-51.4] letters and 60.8 [58.7-62.9] letters, respectively). Mean BCVA gains at month 24 were most pronounced for type 2/M eyes (10.8 [8.9-12.7] letters) and similar for type 1 (8.7 [6.9-10.5] letters) and any type 3 eyes (8.3 [6.3-10.3] letters). CONCLUSION: Differences in BCVA outcomes between CONAN lesion type subgroups support the use of an anatomic classification system to characterize MNV and prognosticate visual responses to anti-vascular endothelial growth factor therapy for nAMD. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT00891735. Date of registration: April 29, 2009.

Characterizing Flow and Structure of Diabetic Retinal Neovascularization after Intravitreal Anti-VEGF Using Optical Coherence Tomography Angiography: A Pilot Study.

Background/Aims. This study evaluates changes of flow and structure of diabetic retinal neovascularization (NV) treated with intravitreal antivascular endothelial growth factor (VEGF) agents using optical coherence tomography angiography (OCTA). With OCTA, retinal blood vessels are visualized at high resolution to separately look at flow and structure information without the need for dye injection. We introduce a new measurement method including and combining information of flow and structure. Methods. Retrospective observational case series. Patients with proliferative diabetic retinopathy (PDR) were treated with intravitreal antiVEGF injections. Retinal NV were repeatedly imaged using swept-source OCTA (Zeiss PlexElite 9000) at baseline, after initial treatment block with 3-4 monthly injections, and during a follow-up period of up to 51 weeks. Change of size and flow density of the structural and angio area of NV was assessed. Results. Nine NV in eight eyes of five patients were analyzed with a median follow-up time of 45 weeks. After the initial treatment block, en face structural area regressed, 18.7% ± 39.0% (95% CI 44.2-6.8%, p=0.26), and en face angio area regressed, 51.9% ± 29.5% (95% CI 32.6 to 71.2%, p=0.007). Flow density within the en face structural area decreased by 33% ± 19.2% (95% CI 20.5-45.5%, p=0.0077). Flow density within the en face angio area decreased by mean 17.9% ± 25.2% (95% CI 1.4-34.4%, p=0.066). In two fellow eyes, NV recurrence could be observed before the onset of vitreous bleeding in one. Conclusion. Our study introduces a new quantitative measurement for NV in PDR, combining structure and flow measurement. The structure area remained after treatment, while its flow density and angio area regressed. We propose this measurement method as a more physiological and possibly more comparable metrics.

Routine Clinical Practice Treatment Outcomes of Eplerenone in Acute and Chronic Central Serous Chorioretinopathy.

Purpose: To evaluate efficacy of eplerenone therapy vs. observation on resolution of subretinal fluid (SRF) in patients with acute and chronic central serous chorioretinopathy (CSCR) in routine clinical practice. Methods: Retrospective comparative case series of eyes diagnosed with CSCR treated with eplerenone or observation. Primary outcome measure was maximum height of SRF at 12 months. Secondary outcome was percentage of eyes with complete resolution of SRF, percentage of eyes with reduction of SRF ≥50%, and best corrected visual acuity (VA) at 12 months. Separate analysis was conducted for eyes with acute and chronic CSCR. Results: Sixty-eight eyes of 60 patients (82% male) were included. Eleven of the 38 eyes with acute CSCR, and seven of the 30 eyes with chronic CSCR, received eplerenone. Subretinal fluid decreased from baseline to 12 months in acute (287 ± 221 to 31 ± 63 µm) and chronic (148 ± 134 to 40 ± 42 µm) CSCR. Kaplan-Meier curves were similar for treated and observed eyes and COX regression analysis did not show a significant difference in SRF resolution in treated vs. observed eyes (p = 0.6 for acute, p = 0.2 for chronic CSCR). Conclusion: This routine clinical practice outcome study did not show evidence of efficacy of eplerenone on resolution of SRF in acute nor chronic CSCR.

Fluid as a critical biomarker in neovascular age-related macular degeneration management: literature review and consensus recommendations.

Current guidelines on the management of patients with neovascular age-related macular degeneration (nAMD) lack clear recommendations on the interpretation of fluid as seen on optical coherence tomography (OCT) imaging and the incorporation of this information into an ongoing disease treatment strategy. Our objective was to review current guidelines and scientific evidence on the role of fluid as a biomarker in the management of nAMD, and develop a clinically oriented, practical algorithm for diagnosis and management based on a consensus of expert European retinal specialists. PubMed was searched for articles published since 2006 relating to the role of fluid in nAMD. A total of 654 publications were screened for relevance and 66 publications were included for review. Of these, 14 were treatment guidelines, consensus statements and systematic reviews or meta-analyses, in which OCT was consistently recommended as an important tool in the initial diagnosis and ongoing management of nAMD. However, few guidelines distinguished between types of fluid when providing recommendations. A total of 52 publications reported primary evidence from clinical trials, studies, and chart reviews. Observations from these were sometimes inconsistent, but trends were observed with regard to features reported as being predictive of visual outcomes. Based on these findings, diagnostic recommendations and a treatment algorithm based on a treat-and-extend (T&E) regimen were developed. These provide guidance on the diagnosis of nAMD as well as a simple treatment pathway based on the T&E regimen, with treatment decisions made according to the observations of fluid as a critical biomarker for disease activity.

CORRELATION OF OUTER RETINAL TUBULATIONS AND CHORIOCAPILLARIS FLOW SIGNAL DEFICITS SURROUNDING GEOGRAPHIC ATROPHY.

PURPOSE: To evaluate and compare paralesional and perilesional choriocapillaris vascular impairment in eyes with geographic atrophy with and without outer retinal tubulations (ORT). METHODS: Using swept-source optical coherence tomography angiography, 6 × 6 mm scans of eyes with geographic atrophy with and without ORT were acquired. Choriocapillaris en-face flow and structural images were binarized, before flow signal deficit (FD) analysis in the paraatrophy zone (a 500-µm-wide band adjacent to the geographic atrophy) and the periatrophy zone (a 500-µm-wide band adjacent to the latter). RESULTS: Twenty-four eyes of 19 patients with ORT and 18 eyes of 15 patients without ORT were analyzed. With and without ORT, mean percental area of FD (%FD) was greater in para- than in periatrophy zone. The difference of %FD between para- and periatrophy zone (deltaFD) was lower in eyes with ORT (mean 1.8477%, 95% confidence interval 0.8607-2.8346) than without ORT (mean 4.0018%, 95% confidence interval 2.8622-5.1414). CONCLUSION: In eyes with geographic atrophy caused by non-neovascular age-related macular degeneration, smaller reductions in FDs were found between the para- and periatrophy zone in eyes with ORT. In both cohorts, the paraatrophy zone had more FD than the periatrophy zone.

En Face Optical Coherence Tomography Imaging Ellipsoid Zone Regeneration in Laser-Induced and Solar Maculopathies.

The purpose of the study was to analyze imaging findings in spectral domain en face optical coherence tomography (SD OCT) in patients with laser-induced and solar maculopathies focusing on the possible regeneration of the ellipsoid zone. In a retrospective case series of 3 patients (4 eyes) with solar maculopathy and 2 patients (3 eyes) with laser-induced maculopathy who underwent a comprehensive ocular examination, ellipsoid zone (EZ) was segmented from SD OCT data. Evaluation of EZ in en face OCT revealed a hyporeflective lesion surrounded by a hyperreflective border. The area of EZ alteration was measured manually in en face OCT. All patients showed partial EZ regeneration. Mean EZ alteration decreased from 0.12 mm2 (range: 0.05-0.32) at baseline to 0.07 mm2 (range: 0.01-0.22) at last follow-up (p = 0.018, mean follow-up: 372 days; range: 115-592). Mean best visual acuity (BVA) improved from 20/36 at baseline to 20/30 (p = 0.018). In conclusion, en face OCT imaging clearly delineated the area of EZ alteration in patients with laser-induced and solar maculopathies. Follow-up showed significant reformation of the EZ as well as improvement of BVA.

MULTIMODAL IMAGING OF CHOROIDAL LESIONS IN DISSEMINATED MYCOBACTERIUM CHIMAERA INFECTION AFTER CARDIOTHORACIC SURGERY.

PURPOSE: To explore morphologic characteristics of choroidal lesions in patients with disseminated Mycobacterium chimaera infection subsequent to open-heart surgery. METHODS: Nine patients (18 eyes) with systemic M. chimaera infection were reviewed. Activity of choroidal lesions were evaluated using biomicroscopy, fundus autofluorescence, enhanced depth imaging optical coherence tomography, fluorescein angiography/indocyanine green angiography, and optical coherence tomography angiography. Relationships of choroidal findings to systemic disease activity were sought. RESULTS: All 9 male patients, aged between 49 and 66 years, were diagnosed with endocarditis and/or aortic graft infection. Mean follow-up was 17.6 months. Four patients had only inactive lesions (mild disease). In all five patients (10 eyes) with progressive ocular disease, indocyanine green angiography was superior to other tests for revealing new lesions and active lesions correlated with hyporeflective choroidal areas on enhanced depth imaging optical coherence tomography. One eye with a large choroidal granuloma developed choroidal neovascularization. Optical coherence tomography angiography showed areas with reduced perfusion at the inner choroid. All 5 patients with progressive ocular disease had evidence of systemic disease activity within ±6 weeks' duration. CONCLUSION: Choroidal manifestation of disseminated M. chimaera infection indicates systemic disease activity. Multimodal imaging is suitable to recognize progressive ocular disease. We propose ophthalmologic screening examinations for patients with M. chimaera infection.

[Fabry disease - the profile of an orphan disease]. / Morbus Fabry ­ das Porträt einer seltenen Erkrankung.

Fabry disease - the profile of an orphan disease Abstract. Fabry disease is a lysosomal storage disease, characterized by a deficient lysosomal function. The main pathophysiological mechanism is the deficiency of the enzyme α-galactosidase A. As a result, an accumulation of the substrate globotriaosylceramide occurs in tissues of affected patients. Fabry disease is a X chromosome-linked disease, hence women with one allele often show only mild symptoms. Frequent and unspecific initial symptoms in childhood include acroparesthesias, hypo- and anhidrosis, and angiokeratoma. Life-threatening complications such as progressive kidney insufficiency, cardiomyopathy, and cerebrovascular insult manifest only in later adulthood. The diagnosis requires the measurement of the α-galactosidase A activity in blood plasma or white blood cells. Approved therapeutic methods are the enzyme-replacement therapy and pharmacologic chaperone.

Safety and Feasibility of a Novel Sparse Optical Coherence Tomography Device for Patient-Delivered Retina Home Monitoring.

PURPOSE: To study a novel and fast optical coherence tomography (OCT) device for home-based monitoring in age-related macular degeneration (AMD) in a small sample yielding sparse OCT (spOCT) data and to compare the device to a commercially available reference device. METHODS: In this prospective study, both eyes of 31 participants with AMD were included. The subjects underwent scanning with an OCT prototype and a spectral-domain OCT to compare the accuracy of the central retinal thickness (CRT) measurements. RESULTS: Sixty-two eyes in 31 participants (21 females and 10 males) were included. The mean age was 79.6 years (age range, 69-92 years). The mean difference in the CRT measurements between the devices was 4.52 µm (SD ± 20.0 µm; range, -65.6 to 41.5 µm). The inter- and intrarater reliability coefficients of the OCT prototype were both >0.95. The laser power delivered was <0.54 mW for spOCT and <1.4 mW for SDOCT. No adverse events were reported, and the visual acuity before and after the measurements was stable. CONCLUSION: This study demonstrated the safety and feasibility of this home-based OCT monitoring under real-life conditions, and it provided evidence for the potential clinical benefit of the device. TRANSLATIONAL RELEVANCE: The newly developed spOCT is a valid and readily available retina scanner. It could be applied as a portable self-measuring OCT system. Its use may facilitate the sustainable monitoring of chronic retinal diseases by providing easily accessible and continuous retinal monitoring.

Review of people with retinal vasculitis and positive QuantiFERON®-TB Gold test in an area nonendemic for tuberculosis.

PURPOSE: To assess the frequency of a positive QuantiFERON®-TB Gold test (quantiferon) among patients with retinal vasculitis in an area nonendemic for tuberculosis (TB); to review clinical characteristics and management of affected individuals. METHODS: Consecutive patients with retinal vasculitis and a positive quantiferon were retrospectively analyzed. Demographics, clinical data, laboratory, imaging findings, and therapy were evaluated. RESULTS: Among 49 patients with retinal vasculitis, 12 (24%) had a positive quantiferon. Median age was 37 years, there were five female patients. Five individuals (42%) had previously lived in a country endemic for TB. Retinal vasculitis was occlusive in six patients (50%). On chest imaging, pulmonary tuberculosis was suspected in one patient (8.3%). Treatment modalities included full antitubercular treatment (n = 1), isoniazid prophylaxis (n = 6), systemic corticosteroids (n = 8), and laser treatment (n = 5). After a median follow-up of 27.5 months, inflammation was inactive (n = 6) or recurrently present (n = 6). No patient lost ≥ 2 lines of best-corrected visual acuity during follow-up. CONCLUSIONS: The quantiferon test is recommended in the evaluation of people with retinal vasculitis. Interpretation of a positive result can be challenging in a country nonendemic for TB. The majority of patients with quantiferon-positive retinal vasculitis were found to have latent TB.

THREE-DIMENSIONAL ANALYSIS OF SUBMACULAR PERFORATING SCLERAL VESSELS BY ENHANCED DEPTH IMAGING OPTICAL COHERENCE TOMOGRAPHY.

PURPOSE: To analyze submacular perforating scleral vessels (PSVs) using enhanced depth imaging spectral domain optical coherence tomography (EDI-SDOCT). METHODS: Twenty-two eyes of 11 healthy women were included in this retrospective study. Central EDI-SDOCT scans (3 × 4.5 × 1.9 mm, 13.5 mm scan area) were acquired and postprocessed by denoising, manual sclera segmentation, and PSV investigated by five graders. RESULTS: Mean age was 22.4 ± 6.2 years. Mean refractive error was -0.44 ± 0.8 diopters. Mean axial length was 23.08 ± 0.63 mm. The coefficient of agreement for grading was good. Mean number of submacular PSVs was 0.33 ± 0.2 per mm (range from 0 to 9 per eye). Subfield analysis showed 0.2 ± 0.5 (range 0-2) and 2.1 ± 1.8 (range 0-7) vessels, respectively, for central 1-mm diameter and 3-mm diameter. Quadrant analysis showed 0.7 ± 0.9, 0.5 ± 0.9, 0.3 ± 0.6, and 0.4 ± 0.6 vessels, respectively for superior, inferior, nasal, and temporal quadrants. Total number of PSV showed no significant side difference (median difference 0.5, confidence interval -3.0 to 3.0, P = 0.94) or an influence of axial length (P = 0.16). CONCLUSION: This is the first description of three-dimensional EDI-SDOCT visualization of submacular PSV in healthy eyes. This method allows for in vivo imaging of a critical component of outer retinal perfusion at the posterior pole.

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

Purpose: To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene. Methods: A retrospective multicenter study of patients with retinopathy and identified C2orf71 mutations was performed. Ocular function (visual acuity, visual fields, electroretinogram [ERG] responses); retinal morphology (fundus, optical coherence tomography); and underlying mutations were analyzed. Results: Thirteen patients from 11 families, who were aged 7 to 63 years (mean: 32.1 years) at their first examination with presumed compound heterozygous (6/13 patients) or homozygous (7/13 patients) C2orf71 mutations were identified. Eight of the mutations were novel. Truncation mutations were responsible in all cases. Nyctalopia was observed in less than 50% of patients. Visual acuity ranged from 20/20 to light perception. Severe visual loss was associated with atrophic maculopathy. Full-field ERG responses showed severe progressive cone-rod or rod-cone dysfunction. Typical fundus changes were progressive symmetrical retinopathy with an early mild maculopathy and patchy circular midperipheral RPE atrophy. Normal retinal lamination was preserved despite early disruption of the ellipsoid zone and RPE irregularities. Outer retinal tubulations were associated with better-preserved visual acuity. Conclusions: On the basis of our multicenter analysis, C2orf71 might represent a more frequently mutated gene in autosomal recessive retinitis pigmentosa in some populations. The phenotype analysis over a wide age range showed a variable and progressive retinal degeneration with early onset maculopathy and a better visual potential before the age of 30 years.

INCREASED INTRAOCULAR PRESSURE IS A RISK FACTOR FOR UNEXPLAINED VISUAL LOSS DURING SILICONE OIL ENDOTAMPONADE.

PURPOSE: To identify the incidence rate and risk factors for unexplained visual loss associated with silicone oil endotamponade used during primary repair of macula-sparing rhegmatogenous retinal detachments. METHODS: This retrospective cohort study included patients undergoing pars plana vitrectomy for primary surgical repair of macula-sparing rhegmatogenous retinal detachments in whom silicone oil endotamponade was used. The primary outcome measure was the incidence rate of unexplained visual loss and identification of risk factors associated with vision loss. RESULTS: Of 1,218 eyes undergoing pars plana vitrectomy for primary retinal detachment repair, 44 eyes were included for analysis. In 9 eyes (20%), an unexplained vision loss occurred. Logistic regression identified increased intraocular pressure (IOP) (prospectively defined as IOP readings during silicone oil endotamponade ≥21 mmHg on two consecutive visits or ≥25 mmHg at any time during this period) as significant predictor (odds ratio = 4.9; P = 0.04) and a classification tree ranked IOP as the most important variable for vision loss. Incidence rate of vision loss in eyes experiencing IOP increase was 4.5 vision loss events per 1,000 days at risk compared with 1 event per 1,000 days in eyes without IOP increase, yielding an incidence rate ratio of 4.5 (95% confidence interval: 1.1-17.9; P = 0.02). CONCLUSION: Sufficient control of IOP during silicone oil endotamponade for primary retinal detachment repair is warranted to reduce the probability of vision loss.