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Background: Neurofibromatosis type 1 is an autosomal dominant disorder predisposing to numerous tumors. Sporadic mutations account for half of the cases. They can occur on a mosaic pattern, which might remain undiagnosed, depending on the clinical phenotype., Materials and Methods: We carried out an extended ophthalmological assessment followed by a neurological examination as well as a cardiovascular and an orthopedic examination. The patient's DNA was drawn and next generation sequencing was used on a multigenic panel (NF1, NF2, SPRED1, LZTR1, SMARCB1, SMARCE1). A written informed consent was obtained from the patient., Results: We report the case of a thirty-year-old male who presented for a routine ocular checkup. An incidental finding of bilateral numerous bright patchy areas was made on near infrared reflectance imaging, alongside retinal microvascular anomalies. Further questioning and examination revealed café-au-lait macules and axillary freckling, but no Lisch nodules. The patient was referred for genetic testing and a somatic mosaic mutation was found on the NF1 gene (c.4084C>T on the exon 30) with a variant allele frequency of 20%., Conclusions: This report highlights the role of near infrared reflectance imaging in the incidental finding of choroidal alterations, which led to the diagnosis of NF1 mosaicism.

Purpose: To compare widefield optical coherence tomography angiography (OCTA) to ultra-widefield fluorescein angiography (UWFA) in the assessment of nonperfusion in retinal vein occlusion (RVO)., Methods: A cross-sectional study of 43 eyes of 43 patients with RVO examined using both widefield OCTA (PLEX Elite, Carl Zeiss Meditec, Dublin, CA) with a panoramic montage of five 12 × 12-mm images and UWFA (Optos, 200°). Qualitative analysis was performed according to nonperfusion areas (cutoff: three disk areas) on widefield OCTA. The quantitative analysis assessed the vascular density on the widefield OCTA and ischemic index on UWFA., Results: The ischemic index on UWFA and vascular density in the superficial and deep plexus correlated significantly (P = 0.019, r = 0.357 and P < 0.013, r = 0.375, respectively). The qualitative classification on widefield OCTA and ischemic index on UWFA correlated significantly (P < 0.001, r = 0.618). For the detection of marked nonperfusion (ischemic index ≥ 25%), widefield OCTA had a sensitivity of 100% and a specificity of 64.9%., Conclusion: The presence of nonperfusion on UWFA correlated with widefield OCTA. Optical coherence tomography angiography could help to identify high-risk RVO patients who might benefit from a further evaluation using fluorescein angiography.

Background: Pseudophakic cystoid macular edema (PCME) is a common complication of cataract surgery. We report the management of a case presenting with PCME in his left eye complicated by a full-thickness macular hole (MH). Four weeks after a cataract surgery on his left eye, a 75-year-old man presented with a vision loss on the same eye (best-corrected visual acuity: 20/64). A PCME complicated by a full-thickness MH was diagnosed. After oral acetazolamide treatment, the PCME completely regressed and the full-thickness MH closed after medical treatment., Conclusion: Macular edema may rarely lead to MHs, by inducing mechanical changes and probable inflammatory mechanisms as well as a thinning of the fovea. We report a case of spontaneous closure of MH complicating a PCME, with medical treatment.

Purpose: To analyze retrospectively the efficacy of intravitreal ranibizumab injections for the management of choroidal neovascularization in patients with angioid streaks over a long term., Methods: In this "nonrandomized," double-center, retrospective, interventional case series, a consecutive series of patients affected with choroidal neovascularization associated with angioid streaks were treated with intravitreal ranibizumab injections (0.5 mg/0.05 mL). Best-corrected visual acuity, fundus photography, optical coherence tomography, and fluorescein angiography were examined before and after treatment. The primary endpoint was the percentage of eyes with stable or improved visual acuity at the end of follow-up (loss of less than 3 Early Treatment Diabetic Retinopathy Study lines). Secondary endpoints were the percentage of eyes with stable or decreased macular thickness on optical coherence tomography (less than a 10% increase in macular thickness) and the percentage of eyes with persistent leakage on fluorescein angiography at the last observation carried forward., Results: Thirty-five eyes of 27 patients were treated with repeated intravitreal ranibizumab injections (mean of 9.9 ± 7.2 injections, range 2-26) for a mean of 48.6 ± 17.1 months (range 8-66). At the end of follow-up, best-corrected visual acuity was stabilized or improved in 22 of 35 eyes (62.9%). Macular thickness had stabilized or decreased in 16 of 35 eyes (45.7%). At the last follow-up examination, on fluorescein angiography, no further leakage was observed in 27 of 35 eyes (77.1%)., Conclusion: In this large series of patients with choroidal neovascularization associated with angioid streaks followed for 4 years, ranibizumab injections allowed stabilization of best-corrected visual acuity in most eyes. Ranibizumab appear as an effective therapeutic option in CNV associated with angioid streaks over long time.

Purpose: To report the case of a patient with unilateral idiopathic macular telangiectasia (IMT) associated with type 3 neovascularization., Methods: Observational case report., Results: We describe a case of an 85-year-old woman who presented at our department with a gradual vision loss in her left eye (LE). Her best-corrected visual acuity (BCVA) was 20/200 in the LE. Fundus examination showed 2 small hemorrhages located nasally to the LE fovea, as well as lipid exudates. Fluorescein angiography revealed early hyperfluorescence corresponding to the dilated capillaries. Spectral-domain optical coherence tomography (SD-OCT) showed several microaneurysms within the inner retinal layers. Late indocyanine green angiography revealed a focal hyperfluorescence corresponding to a type 3 neovascularization. No signs of IMT or type 3 neovascularization were detected in the right eye. Based on these findings, the patient was diagnosed with type 1 IMT and coincident type 3 neovascularization. The LE was treated with intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections. Twenty-four months later, SD-OCT revealed regression of the exudative signs, and LE BCVA improved to 20/100., Conclusion: We describe the case of an unusual association between older-onset IMT and type 3 neovascularization, and subsequent regression by anti-VEGF injections. We propose a new IMT subtype called type 1C for this association. Further research must be done in order to establish the pathophysiologic mechanism and likelihood of this association.

Background: Our purpose was to describe the different morphological features in adult onset foveomacular vitelliform dystrophy (AOFVD), using en face enhanced depth imaging (EDI) spectral-domain optical coherence tomography (SD-OCT)., Methods: Thirty eyes of 22 consecutive patients presenting with diagnosis of AOFVD were enrolled. Diagnosis of AOFVD was concluded based on fundus examination, autofluorescence imaging, fluorescein angiography and SD-OCT. En face OCT imaging was obtained with the Spectralis EDI SD-OCT; 97 inverted sections (nine averaged B-scans per image) were acquired., Results: On en face OCT, vitelliform lesions appeared as regular concentric rings of different reflectivity. From the periphery to center of the ring, we observed: (1) the hypereflective ring representing the inner segment/ outer segment (IS/OS) junction, which was continuous in 23 out of 30 eyes, and (2) a well-detectable hyporeflective ring between the IS/OS junction and vitelliform material in 20 out of 30 eyes; the innermost composant of the lesion was hypereflective, and it corresponded to vitelliform material. In eight out of 30 eyes, a hyporeflective "croissant"-shaped lesion with inferior concavity in the upper part of the hyperreflective material was present. Hypereflective retinal pigment epithelium (RPE) elevations or bumps were detected in 25 out of 30 eyes. These areas of focal RPE thickening or bumps appeared to be intensely hypereflective on infrared reflectance imaging., Conclusion: En face imaging of the retina helps visualizing the distribution of vitelliform material in AOFVD. The sedimentation of vitelliform lesions is characterized by a upper "croissant"-shaped hypoflectivity. The bumps/thickening of RPE appeared as hypereflective lesions on IR imaging.

Background: To evaluate the anatomical and functional outcomes of intravitreal dexamethasone implant in patients with macular edema (ME) secondary to retinitis pigmentosa (RP)., Methods: Three patients (four eyes), aged 24 to 46 years, presented with refractory ME secondary to RP. Intravitreal dexamethasone implant (Ozurdex) was administered to treat ME. The anatomical (central macular thickness [CMT]) and functional (best-corrected visual acuity [BCVA]) outcomes as well as adverse events were recorded., Results: All patients completed 6 months follow-up. After intravitreal Ozurdex all patients showed regression of ME. At baseline, mean CMT was 443 ± 185 μm (range 213-619 μm); ME improved to 234 ± 68 μm (range 142-307 μm) at 1 month, to 332 ± 177 μm (range 139-513 μm) at 3 months, and to 305 ± 124 μm (range 144-447 μm) at 6 months. Recurrent ME was recorded in 2 patients (both patients at 3 months from intravitreal dexamethasone implant). Retreatment with intravitreal Ozurdex was performed in two patients. Mean BCVA improved form 20/160 (range 20/50-20/200) (baseline) to 20/100 (range 20/40-20/125) at 1 month, to ∼20/125 (range 20/100-20/200) at 3 months, and to ∼ 20/125 (range 20/100-20/160) at 6 months. No serious ocular and systemic adverse events were observed during the study period., Conclusions: Intravitreal dexamethasone implant provides anatomic and functional improvements and may represent a valuable treatment option for patients with ME secondary to RP.

Purpose: Age-related macular degeneration (AMD) is a multifactorial disease involving genetic and environmental factors. Most of the genetic factors identified so far involve the nuclear genome. Recently, two studies in North America and Australia reported an association between advanced AMD and the mitochondrial T2 haplogroup. Our purpose was to assess this association in a large French population., Methods: This case control study included 1,224 patients with neovascular AMD and 559 controls with normal fundus. Mitochondrial DNA polymorphisms at and around nucleotides 4917, 11,812, and 14,233 were determined using PCR amplification and direct sequencing of mitochondrial DNA., Results: No association was found between the mitochondrial T2 haplogroup and neovascular AMD in the French population: 94/1,152 patients with neovascular AMD had the T2 haplogroup (8.2%) versus 34/482 controls (7.1%; odds ratio=0.9 [0.5-1.5], p=0.66)., Conclusions: An association between AMD and the T2 haplogroup, previously described in North American and Australian populations, was not confirmed in a large French population.

Purpose: To analyze the genetic and environmental factors associated with reticular pseudodrusen (RPD) in age-related macular degeneration (AMD)., Methods: In a large population, AMD patients (n = 519) with and without RPD were assessed with a standardized examination including infrared images and spectral domain optical coherence tomography scans. Three groups were defined: Group 1: AMD patients with RPD (n = 105); Group 2: AMD patients without RPD (n = 414); and Group 3: controls with no AMD and no RPD (n = 430). Four genes associated with AMD (CFH, ARMS2/HTRA1, C3, apolipoprotein E) and environmental factors were assessed between the 3 groups., Results: None of the environmental factors studied were more significantly associated to either Group 1 or Group 2. The odds ratios and 95% confidence intervals for individuals homozygous for the CFH risk allele were 4.0 (2.1-7.7) ([95% confidence interval: 2.1-7.7]; P < 0.0004) in Group 1 and 4.3 ([2.6-7.1]; P < 0.0004) in Group 2, compared with Group 3. The odds ratios for individuals homozygous for the ARMS2 risk allele for Groups 1 and 2 compared with Group 3 were 16.3 ([7.6-35.4]; P < 0.0004) and 11.9 ([6.3-22.3]; P < 0.0004), respectively. None of the genotypes studied were more significantly associated to Group 1 than Group 2., Conclusion: Genotypes known to be associated with AMD were similarly observed in patients with and without RPD.

Background: To assess the ability of the Spectralis optical coherence tomography (OCT) segmentation software to identify the inner limiting membrane and Bruch's membrane in exudative age-related macular degeneration (AMD) patients., Methods: Thirty-eight eyes of 38 naive exudative AMD patients were retrospectively included. They all had a complete ophthalmologic examination including Spectralis OCT at baseline, at month 1 and 2. Reliability of the segmentation software was assessed by 2 ophthalmologists. Reliability of the segmentation software was defined as good if both inner limiting membrane and Bruch's membrane were correctly drawn., Results: A total of 38 patients charts were reviewed (114 scans). The inner limiting membrane was correctly drawn by the segmentation software in 114/114 spectral domain OCT scans (100%). Conversely, Bruch's membrane was correctly drawn in 59/114 scans (51.8%). The software was less reliable in locating Bruch's membrane in case of pigment epithelium detachment (PED) than without PED (42.5 vs. 73.5%, respectively; p = 0.049), but its reliability was not associated with SRF or CME (p = 0.55 and p = 0.10, respectively)., Conclusion: Segmentation of the inner limiting membrane was constantly trustworthy but Bruch's membrane segmentation was poorly reliable using the automatic Spectralis segmentation software. Based on this software, evaluation of retinal thickness may be incorrect, particularly in case of PED. PED is effectively an important parameter which is not included when measuring retinal thickness., (Copyright © 2012 S. Karger AG, Basel.)

Age-related macular degeneration (AMD) is a complex, multifactorial disease associated with environmental and genetic factors. This review emphasizes the clinical impact of the major genetic factors mainly located in the complement factor H gene and on the 10q26 locus, and their current and future implications for the management of AMD., (Copyright © 2011 S. Karger AG, Basel.)

Purpose: To analyze retrospectively the efficacy of intravitreal ranibizumab injections for the management of choroidal neovascularization (CNV) in patients with angioid streaks., Design: Nonrandomized, double-center, retrospective, interventional case series., Methods: A consecutive series of patients affected with CNV associated with angioid streaks were treated with intravitreal ranibizumab injections (0.5 mg/0.05 mL). Best-corrected visual acuity, fundus photography results, optical coherence tomography (OCT) results, and fluorescein angiography results were examined before and after treatment. The primary end point was the percentage of eyes with stable or improved visual acuity at the end of follow-up. Secondary end points were the percentage of eyes with stable or decreased macular thickness on optical coherence tomography and the percentage of eyes with persistent leakage on fluorescein angiography at the last follow-up examination., Results: Thirty-five eyes of 27 patients were treated with repeated intravitreal ranibizumab injections (mean, 5.7 injections; range, 2 to 14 injections) for a mean of 24.1 months (range, 6 to 37 months). At the end of follow-up, visual acuity was stabilized or improved in 30 (85.7%) of 35 eyes. Macular thickness had stabilized or decreased in 18 (51.5%) of 35 eyes. At the last follow-up examination, on fluorescein angiography, no further leakage was observed in 23 (65.7%) of 35 eyes., Conclusions: In this large series of angioid streaks-associated CNV, ranibizumab injections allowed stabilization of visual acuity. Ranibizumab seems to be a safe therapeutic option in CNV associated with angioid streaks., (Copyright © 2010 Elsevier Inc. All rights reserved.)