Bilateral Acute Depigmentation of Iris (BADI) and Bilateral Acute Iris Transillumination (BAIT)Following Acute COVID-19 Infection.

PURPOSE: To report the presenting features and outcomes in patients who developed bilateral acute iris transillumination (BAIT) or bilateral acute depigmentation of iris (BADI) following acute COVID-19 infection. METHODS: Thirty two eyes of 16 patients were reviewed retrospectively. The severity of COVID-19 infection, use of antibiotics, time of onset of ocular symptoms; ocular signs, the course and surgical procedures were recorded. RESULTS: 24 eyes of 12 BAIT and eight eyes of four consecutive BADI patients were included. The mean time between infection and onset of ocular symptoms was 2.5±1.1 weeks. Nine patients were treated with oral moxifloxacin for COVID-19 prior to presentation. Trabeculectomy was performed in 7 eyes (21.8%) of 5 BAIT patients; in the postoperative follow-up, IOP was controlled without medication in 6 eyes, with medication in 1 eye. CONCLUSION: BADI and BAIT can also develop after COVID-19 infection. A significant proportion of BAIT patients may require glaucoma surgery.

Bruch membrane opening-minimum rim width and retinal nerve fiber layer thickness in myopic children.

BACKGROUND/OBJECTIVES: It is debatable whether the decrease of retinal nerve fiber layer (RNFL) thickness in myopic people under 18 years of age is due to insufficient measurement techniques or to real physical loss of retinal ganglion cells and axons. Hence, to better understand the relationship between the degree of myopia and the neuroretinal rim (NR), we aim to investigate the NR in the eyes of healthy myopic children using the novel measurement algorithms of spectral-domain optical coherence tomography (SD-OCT). SUBJECTS/METHODS: This prospective, cross-sectional study includes 378 left eyes of 378 (301 female) participants divided into three groups according to their spherical equivalent (SE) refractive error (RE) [Group-1(G1), -1.00 ≤ SE ≤ 1.00 diopters (D); Group-2 (G2), -4.00 ≤ SE < -1.00 D; Group-3 (G3), SE<-4.00 D]. All participants underwent a full ophthalmic examination, including biometric and pachymetric measurements. Standard peripapillary RNFL, as well as the novel algorithms, Bruch's membrane opening-minimum rim width (BMO-MRW), and RNFL acquired using the anatomic positioning system (APS-RNFL) were obtained by SD-OCT. Nasal, temporal, temporal-inferior, temporal-superior, nasal-inferior, nasal-superior sectors' and their general (global) averages were recorded. Rim areas and disc sizes were measured via confocal scanning laser ophthalmoscopy. Global and the six sectors' averages were recorded. RESULTS: G1 consisted of 141 subjects, G2 consisted of 89, and G3 consisted of 48. The sex distribution (p = 0.112) and mean age (p = 0.129) of the groups were similar. The mean global averages of the standard RNFLs were 96 ± 14.4 µ in G1, 93.8 ± 12.9 µ in G2, and 86 ± 11.8 µ in G3. The mean global averages of the APS-RNFLs were 103.9 ± 97 µ in G1, 103.3 ± 10.6 µ in G2, and 102 ± 10.6 µ in G3. The mean global averages of the BMO-MRW were 374.4 ± 57.7 µ in G1, 373.2 ± 62.2 µ in G2, and 351.9 ± 63.9 µ in G3. For the global averages, APS-RNFL and BMO-MRW did not detect any difference between the three groups (p = 0.563, p = 0.089, respectively), but the standard RNFL did (p < 0.001). Standard RNFL and APS-RNFL were found to be well correlated; however, the correlations between BMO-MRW and standard RNFL or APS-RNFL were either absent or very weak. All three methods showed weak but significant negative correlations with high myopic spherical RE, especially those in the standard RNFL. Moderately negative correlations were found between BMO-MRW and disc size in all sectors (highest in the nasal sector; r = -0.387, p < 0.001). However, there was almost no significant relationship between disc size and standard RNFL or APS-RNFL. Moderately significant negative correlations were observed between the groups categorically and standard RNFL in almost all sectors, while this was much less with APS-RNFL and was not observed in almost any sector with BMO-MRW. CONCLUSIONS: When evaluating the NR in healthy myopic children, it was found that, in particular, BMO-MRW and APS-RNFL are less effected by RE degree compared to standard RNFL. BMO-MRW and APS-RNFL should be used on these children to avoid the possible misdiagnosis of glaucoma.

Comparison of the 1-year postoperative results of phacoemulsification-trabeculectomy and phacoemulsification-ExPRESS miniature shunt combined surgeries.

BACKGROUND AND OBJECTIVE: This study aimed to compare the 1-year postoperative phacoemulsification-trabeculectomy (P-Trab) and phacoemulsification-ExPRESS® (P-200 model) miniature shunt (P-ExPRESS) combined surgeries. MATERIALS AND METHODS: This retrospective, comparative clinical study investigated 41 eyes of 41 patients diagnosed with open-angle glaucoma and cataract. Of these, 21 eyes underwent P-Trab surgery and 20 eyes underwent P-ExPRESS surgery. The 1-year follow-up results, including intraocular pressure (IOP), visual acuity (VA), medications, and complications, were reviewed and compared. A 5 ≤ IOP ≤ 18 mmHg or 30% reduction from baseline was defined as Qualified Success (QS-1), and target IOP without medication was defined as Complete Success (CS-1). A 5 ≤ IOP ≤ 15 mmHg or 40% reduction from baseline was defined as Qualified Success (QS-2), and target IOP without medication was defined as Complete Success (CS-2). RESULTS: The mean follow-up time was 16 months (12-26 months). Results after the twelfth month for P-Trab versus P-ExPRESS are: CS-1: 42.8% versus 60.0% (P = 0.354); QS-1: 86.7% versus 95% (P = 0.606); CS-2:33.3% versus 40% (P = 0.751); QS-2: 66.6% versus 75% (P = 0.733). Kaplan-Meier survival analysis was not statistically significant between two groups for both QS-1, CS-1 and QS-2, CS-2 (P = 0.329 vs P = 0.365, P = 0.765 vs P = 0.789, respectively). Pre-op mean IOP was: 33.19 ± 8.7 versus 34.55 ± 11.3 mmHg; post-op mean IOP was: 15.19 ± 3.07 versus 15.30 ± 3.32 mmHg (P = 0.913); pre-op mean VA was: 1.17 ± 1.04 versus 1.15 ± 1.07 logMAR; and post-op mean VA was: 0.61 ± 0.80 versus 0.66 ± 0.99 logMAR (P = 0.869). The pre-op mean number of antiglaucomatous medications was 3.76 ± 0.53 versus 3.30 ± 1.45, and the post-op results were 1.52 ± 1.53 versus 0.85 ± 1.26 (P = 0.135). Comparing the pre-op and post-op values, both types of surgeries were equally effective (P = 0.00). Surgical failure was 14.2% (3/21) versus 5% (1/20), and the incidence ratios of significant complications were: 47% (10/21) versus 10% (2/20) and P-Trab versus P-ExPRESS, respectively (P = 0.015). CONCLUSION: The 1-year postoperative results suggest that P-ExPRESS is as effective as P-Trab, with fewer complications.

New Circumpapillary Retinal Nerve Fiber Layer Thickness and Bruch's Membrane Opening-Minimum Rim Width Assessment in Nonglaucomatous Eyes with Large Discs.

PURPOSE: To compare the new spectral-domain optical coherence tomography (SD-OCT) algorithm for measuring circumpapillary retinal nerve fiber layer (RNFL) thickness centered on Bruch's membrane opening (BMO), RNFLBMO1, with the conventional circumpapillary RNFL thickness measurement centered on the optic disc (RNFLDI), and assess the BMO-minimum rim width (BMO-MRW) in nonglaucomatous eyes with large discs. METHODS: This prospective, cross-sectional, observational study included a total of 91 eyes of 91 patients having nonglaucomatous eyes with large discs (Group 1) and 50 eyes of 50 healthy subjects (Group 2). The optic nerve head (ONH) parameters obtained by confocal scanning laser ophthalmoscopy (CSLO), peripapillary RNFL thickness, BMO area, and BMO-MRW were imaged with SD-OCT. RESULTS: The mean disc size was 3.06 ± 0.42 mm2 (range, 2.61-4.68) in Group 1 and 1.95 ± 0.23 mm2 (range, 1.6-2.43) in Group 2 (p=0.0001). The mean BMO area was 2.9 ± 0.58 mm2 (range, 1.26-4.62) in Group 1 and 2.05 ± 0.31 mm2 (range, 1.51-2.82) in Group 2 (p=0.0001). The difference between RNFLDI and RNFLBMO1 measurements in Group 1 was stronger than in Group 2 because it was significant in all sectors in large discs. The mean global BMO-MRW thickness was significantly thinner in large discs; it was 252.95 ± 42.16 µ (range, 170-420) in Group 1 and 326.06 ± 73.39 µ (range, 210-440) in Group 2 (p=0.0001). There was a positive correlation between BMO-MRW thickness measurements and RNFL thickness parameters, both with RNFLDI and RNFLBMO1, in global and all optic nerve sectors except temporal quadrants with r = 0.257-0.431 (p ≤ 0.001-0.01) in Group 1. But in control group, Group 2, there was a weak correlation or no correlation between BMO-MRW thickness measurements and RNFL thickness parameters with r = -0.256-0.328 (p=0.797-0.02). CONCLUSION: The new circumpapillary RNFL scanning algorithm centered on BMO is better to assess the RNFL thickness and BMO-MRW in large discs for the early diagnosis of glaucoma.

Long-term Results of Trabeculectomy With Mitomycin-C in Patients With Bilateral Acute Iris Transillumination.

PRéCIS:: The present study suggests that immediate trabeculectomy with mitomycin C (MMC) may be performed as a safe and effective intervention in the management of refractory ocular hypertension (OHT)/glaucoma in patients with bilateral acute iris transillumination (BAIT). PURPOSE: To report the long-term results of trabeculectomy with MMC in the management of OHT/glaucoma in patients with BAIT. MATERIALS AND METHODS: In total, 9 eyes of 6 patients with BAIT who underwent trabeculectomy with MMC between 2007 and 2015 were reviewed. Main outcome measures were control of intraocular pressure (IOP), the number of antiglaucomatous medications required to achieve the desired IOP, and complications. RESULTS: The postoperative follow-up time ranged between 2 and 9.5 years. IOP at presentation was >21 mm Hg in all patients. Maximum IOP with maximum antiglaucomatous medications during follow-up before surgery ranged between 36 and 55 mm Hg. At last visit, IOP ranged between 8 and 17 mm Hg, and 6 of 9 of the eyes required no antiglaucomatous medications. There was no failure in any patients according to the guidelines of the World Glaucoma Association. The most common complication was cataract formation in 7 eyes. CONCLUSIONS: The favorable outcomes observed during 2 to almost 10 years following surgical intervention are encouraging. Therefore, trabeculectomy with MMC provides long-term safe and effective results in OHT/glaucoma in patients with BAIT.

The Effect of Glaucoma Medication on Choroidal Thickness Measured with Enhanced Depth-Imaging Optical Coherence Tomography.

The aim of this study was to examine the effect of the glaucoma medication on Choroidal Thickness (CT) in those with Primary Open-Angle Glaucoma (POAG) and normal cases. This prospective study included 27 patients with newly diagnosed POAG (group 1; 49 eyes), undergoing glaucoma treatment, and 30 patients, whose treatment was terminated due to misdiagnosis (group 2; 57 eyes). Choroidal thickness was measured using Enhanced Depth Imaging (EDI) with Spectral Domain Optical Coherence Tomography (SD-OCT) at the first visit and almost one month later. In group 1, the mean Sub-Foveal CT (SFCT) was 301 ± 91 µm, the mean CT was 264 ± 87 µm at the nasal point, 1 mm to the fovea, and 271 ± 84 µm at the temporal point, 1 mm to the fovea. The second measurements were obtained as 39 ± 8.5 days after treatment began; the SFCT was 319 ± 85 µm (P = 0.0017), the nasal 1 mm CT was 275 ± 88 µm (P = 0.162), and the temporal 1mm CT was 291 ± 80 µm (P = 0.007). In group 2, the mean SFCT was 292 ± 100 µm, the nasal 1 mm CT was 254 ± 97 µm, and the temporal 1 mm CT was 261 ± 97 µm. The second measurements were obtained 37.5 ± 5.5 days after the treatment ended; the SFCT was 295 ± 107 µm (P = 0.212), the nasal 1 mm CT was 262 ± 104 µm (P = 0.709), and the temporal 1 mm CT was 266 ± 104 µm (P = 0.792). Glaucoma medication affects the CT as a marker for choroidal blood flow in patients with glaucoma. Further studies with larger sample sizes are required to examine each glaucoma medication subgroup.

Surgical Outcomes in Radiation-induced Cataracts After External-beam Radiotherapy in Retinoblastoma.

OBJECTIVES: To investigate visual outcomes, surgical complications and tumor recurrence among children with retinoblastoma undergoing phacoemulsification and posterior chamber intraocular lens (PCIOL) implantation for radiation-induced cataract secondary to external beam radiotherapy. MATERIALS AND METHODS: The medical records of all patients treated by phacoemulsification and PCIOL implantation for radiation-induced cataract after external beam radiotherapy for retinoblastoma at a single institution between 1980 and 2014 were reviewed retrospectively. The study included 6 eyes of 6 children (4 girls, 2 boys). RESULTS: Four patients had bilateral and two patients had unilateral retinoblastoma. The median age at diagnosis of retinoblastoma was 28.3 months (range, 12-96 months). All patients received chemoreduction (OPEC protocol) and external beam radiotherapy with or without local ophthalmic therapies and developed radiation-induced cataracts. The median interval from retinoblastoma diagnosis to cataract surgery was 96.3 months (range, 73-122 months). Time interval between surgery and last retinoblastoma treatment was 67.2 months. Postoperative complications included iridocyclitis in 2 eyes and posterior capsule opacification in all eyes. The mean follow-up after surgery was 105.8 months (range, 59-120 months). Final visual acuity was better in all eyes than preoperative visual acuities. CONCLUSION: Phacoemulsification and PCIOL implantation is an effective method of managing radiation-induced cataracts in eyes with previously treated retinoblastoma. However, visual acuity was limited by the presence of primary macular tumor.

Atypical Central Serous Chorioretinopathy.

Bullous central serous chorioretinopathy (CSCR) is a rare variant of CSCR characterized by severe serous retinal detachment which especially involves the inferior quadrants. Corticosteroid therapy administered for systemic or ocular misdiagnoses may induce and exacerbate CSCR. The purpose of this study was to report diagnosis and treatment results of an unusual case of bullous CSCR induced by systemic and periocular corticosteroid therapy received at another medical center due to a misdiagnosis of Vogt-Koyanagi-Harada disease.

Multimodal imaging of membranoproliferative glomerulonephritis type II.

To report the fundus findings on multimodal imaging of a membranoproliferative glomerulonephritis type II (MPGNII) patient. A 41-year-old woman had a medical history of renal transplantation for MPGNII 5 years prior to presentation to our clinic for ophthalmic examination. Fundus examination showed macular retinal pigment epithelial changes and large peripapillary atrophy in the right eye, and yellowish bilateral drusen-like deposits peripherally. Fundus fluorescein angiography and indocyanine green angiography revealed multifocal hyperfluorescence in the peripheral retina with accompanying deposits. A hyperautofluorescence pattern was seen in the fundus autofluorescence (FAF) images of the deposits. Spectral domain optical coherence tomography (SD-OCT) scans of the drusen-like material showed retinal pigment epithelium (RPE) elevations with moderate hyperreflectivity underneath. Multiple imaging modalities of the posterior segment can provide detailed information about the ocular involvement of MPGNII and help us to confirm the diagnosis and to follow the lesions.

Silent polypoidal choroidal vasculopathy in a patient with angioid streaks.

We present a case of silent polypoidal choroidal vasculopathy (PCV) in a patient with angioid streaks. PCV was detected during a routine ophthalmic examination and confirmed by fluorescein angiography, indocyanine green angiography, and optical coherence tomography. After 2 years of follow-up, the PCV remained silent without any complications. We report this rare coexistence and review literature on this topic.

Silent polypoidal choroidal vasculopathy in a patient with angioid streaks / Vasculopatia polipoidal de coróide quiescente em um paciente com estrias angióides

ABSTRACT We present a case of silent polypoidal choroidal vasculopathy (PCV) in a patient with angioid streaks. PCV was detected during a routine ophthalmic examination and confirmed by fluorescein angiography, indocyanine green angiography, and optical coherence tomography. After 2 years of follow-up, the PCV remained silent without any complications. We report this rare coexistence and review literature on this topic.

RESUMO Nós apresentamos um relato de vasculopatia polipoidal de coroide (PCV) em paciente com estrias angióides. Vasculopatia polipoidal de coroide detectada em exame oftalmológico de rotina e confirmado por angiofluoresceinografia, angiografia com indocianina verde e tomografia de coerência óptica. Após 2 anos de seguimento a vasculopatia polipoidal de coroide permaneceu quiescente, sem qualquer complicação. Nós relatamos esta coexistência rara e apresentamos revisão da literatura.

Peripapillary Retinoschisis in Glaucoma Patients.

Purpose. To investigate peripapillary retinoschisis and its effect on retinal nerve fiber layer (RNFL) thickness measurements by using spectral-domain optical coherence tomography (SD-OCT) in glaucomatous eyes. Methods. Circumpapillary RNFL (cpRNFL) B-scan images of 940 glaucoma patients (Group 1) and 801 glaucoma-suspect patients (Group 2) obtained by SD-OCT were reviewed. The structural and clinical characteristics of the retinoschisis were investigated. The RNFL thickness measurements taken at the time of retinoschisis diagnosis and at the follow-up visits were also compared. Results. Twenty-nine retinoschisis areas were found in 26 of the 940 glaucoma patients (3.1%) in Group 1 and seven areas were found in 801 patients (0.87%) in Group 2. In glaucomatous eyes, the retinoschisis was attached to the optic disc and overlapped with the RNFL defect. At the time of retinoschisis, the RNFL thickness was statistically greater in the inferior temporal quadrant when compared with the follow-up scans (p < 0.001). No macular involvement or retinal detachment was observed. Conclusion. The present study investigated 33 peripapillary retinoschisis patients. Increase in RNFL thickness measurements was observed at the time of retinoschisis. It is important to examine the cpRNFL B-scan images of glaucoma patients so that the RNFL thickness is not overestimated.

Focal Choroidal Excavation.

Focal choroidal excavation is a choroidal pit that can be detected by optical coherence tomography. Central serous chorioretinopathy, choroidal neovascularization and polypoidal choroidal vasculopathy are pathologies associated with focal choroidal excavation. In this article, we present the follow-up and treatment outcomes of three eyes of two patients with focal choroidal excavation.

Clinical Features and Course of Patients with Peripheral Exudative Hemorrhagic Chorioretinopathy.

OBJECTIVES: To evaluate the clinical characteristics of patients who were followed in our clinic with the diagnosis of peripheral exudative hemorrhagic chorioretinopathy (PEHC). MATERIALS AND METHODS: Medical records of 12 patients who were diagnosed with PEHC in Istanbul University Istanbul Faculty of Medicine, Department of Ophthalmology between July 2006 and June 2014 were reviewed retrospectively. RESULTS: This study included 21 eyes of 12 patients. Four (33.3%) of the patients were male and 8 (66.7%) were female and ages ranged between 73 and 89 years. Eight (66.7%) of the patients were referred to us with the diagnosis of choroidal mass. Unilateral involvement was found in 3 and bilateral involvement in 9 patients. Temporal quadrants were involved in all eyes. Fifteen eyes (71.4%) had subretinal hemorrhage and hemorrhagic/serous retinal pigment epithelial detachment, 11 (52.4%) had lipid exudation, 5 (23.8%) had chronic retinal pigment epithelium alterations, 2 (9.5%) had subretinal fibrosis and 1 (4.8%) had vitreous hemorrhage. PEHC lesions were accompanied by drusen in 11 eyes (52.4%), geographic atrophy in 2 eyes (9.5%), and choroidal neovascularization scar in 2 eyes (9.5%). Treatment was done in both eyes of a patient for lesions which threatened the macula, in a patient with bilateral macular edema and in a patient with vitreous hemorrhage. The remaining eyes were followed-up without any treatment because the lesions did not threaten the macula and they showed no progression during follow-up. CONCLUSION: PEHC is a degenerative disease of peripheral retina that is seen in older patients, and signs of age-related macular degeneration (AMD) may accompany this pathology. Especially in patients with AMD findings, the peripheral retina must be evaluated carefully for existing PEHC lesions.

Evaluation of Follow-Up and Treatment Results in Coats' Disease.

OBJECTIVES: The aim of this study was to evaluate the clinical features, follow-up and treatment results of patients diagnosed with Coats' disease. MATERIALS AND METHODS: Medical records of 27 patients diagnosed with Coats' disease in our clinic were reviewed retrospectively. All patients underwent complete ophthalmological examination and fundus photography was taken. Disease stage and treatment methods used were recorded. RESULTS: Twenty-seven eyes of 27 patients were included in the study. Mean age was 9.03 years; 21 patients were male and 6 were female. Three patients were older than 18 years old. Based on the Shields classification, 1 (3.7%) eye was stage 2A, 4 (14.8%) eyes were stage 2B, 6 (22.2%) were stage 3A1, 3 (11.1%) were stage 3A2, 1 (3.7%) was stage 3B, 4 (14.8%) were stage 4 and 8 (29.6%) were stage 5. Fourteen patients underwent treatment, 12 of whom had combined therapy. The most common treatment modalities were laser photocoagulation and cryotherapy. Encircling band was done in one patient and pars plana vitrectomy in 3 patients. Enucleation was done in 5 patients. CONCLUSION: Coats' disease is a chronic disease and main goal of treatment is to eliminate the vascular anomalies and their complications using repetitive combination therapies. Treatment in the early stages can lead to functional success, and in advanced stages can result in a salvageable eye.

Corneal Collagen Cross-Linking in Pellucid Marginal Degeneration: 2 Patients, 4 Eyes.

Purpose. To report the long-term results of corneal collagen cross-linking (CXL) with riboflavin and ultraviolet-A irradiation in 4 eyes of 2 patients affected by pellucid marginal degeneration (PMD). Methods. This study involved the retrospective analysis of 4 eyes of 2 patients with PMD that underwent CXL treatment. Of the eyes, three had only CXL treatment and one had CXL treatment after an intrastromal corneal ring segment implantation. We have pre- and postoperatively evaluated uncorrected distance visual acuity (UDVA), best corrected distance visual acuity (BCDVA), corneal topography (Pentacam), specular microscopy, and pachymetry. Results. Patient 1 was a woman, aged 35, and Patient 2 was a man, aged 33. The right eye of Patient 1 showed an improvement in her BCDVA, from 16/40 to 18/20 in 15 months, and her left eye improved from 12/20 to 18/20 in 20 months. Patient 2's right eye showed an improvement in his BCDVA, from 18/20 to 20/20 in 43 months, and his left eye improved from 16/20 to 18/20 in 22 months. No complications were recorded during or after the treatment. Conclusion. CXL is a safe tool for the management of PMD, and it can help to stop the progression of this disease.

Nonglaucomatous localized retinal nerve fiber layer defects in Behçet uveitis.

PURPOSE: To describe nonglaucomatous retinal nerve fiber layer (RNFL) defects in patients with Behçet uveitis. DESIGN: Cross-sectional study and observational case series. METHODS: We reviewed the clinical photographs of patients with Behçet uveitis (n = 259), ocular toxoplasmosis (n = 120), and multiple sclerosis (MS)-associated uveitis (n = 40) for the presence of localized RNFL defects. Behçet patients with localized RNFL defects were invited to participate in a prospective evaluation including standard automated perimetry, spectral-domain optical coherence tomography (SD OCT), and RNFL thickness analysis. Main outcome measures were the prevalence of localized RNFL defects, perimetric and SD OCT findings, and RNFL thickness analysis. RESULTS: Sixty-two patients with Behçet uveitis (24%) had localized RNFL defect(s) without any visible scar. Twenty patients (17%) with ocular toxoplasmosis had a localized RNFL defect associated with a retinochoroidal scar in all. None of the MS patients had a localized RNFL defect. Of the 19 patients (24 eyes) with RNFL defect associated with Behçet uveitis who returned for follow-up, there was a corollary thinning on SD OCT B-scan in all and a corresponding visual field defect in 83%. RNFL thickness analysis was within normal limits in 54%, but revealed thinning in the thickness profile scale in 46% and in the pie chart in 21%. CONCLUSION: In Behçet uveitis, localized RNFL defects may be caused by microvascular ischemia at the optic nerve head and/or at the posterior pole and may serve as a helpful ocular diagnostic clue and an indicator of posterior pole involvement, a risk factor for poor visual prognosis.

Acute macular neuroretinopathy misdiagnosed as optic neuritis.

This study aims to report a case of acute macular neuroretinopathy (AMN) misdiagnosed as optic neuritis. The methods include review of the clinical, photographic, angiographic, visual field, infrared imaging, and optical coherence tomography records of a patient with AMN. A 30-year-old female who was initially diagnosed with optic neuritis and at first was treated with systemic corticosteroid because of this misdiagnosis. She was admitted with no decrease in her complaint of central scotoma in both eyes. Her visual acuities were 20/20 and fundoscopy showed reddish brownish pigment changes in the macula of both eyes. Infrared (IR) imaging disclosed bilateral hyporeflective lesions, optical coherence tomography revealed a disrupted inner segment-outer segment junction of the right eye, and visual field assessment showed central scotomas in both eyes. Three years later, fundus examination of the hyporeflective lesions by IR imaging revealed that the lesions had decreased and were only slightly perceptible. This rare case is presented to focus the attention of clinicians and to emphasize the importance of careful ophthalmic examination and imaging techniques.

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.

PURPOSE: Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot-Marie-Tooth (CMT) disease have a 1.4 Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMT1A neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive disease has not been associated with copy-number variation as a mutational mechanism. METHODS: We performed Agilent 8 × 60 K array comparative genomic hybridization on DNA from 12 recessive Turkish families with CMT disease. Additional molecular studies were conducted to detect breakpoint junctions and to evaluate gene expression levels in a family in which we detected an intragenic duplication copy-number variation. RESULTS: We detected an ~6.25 kb homozygous intragenic duplication in NDRG1, a gene known to be causative for recessive HMSNL/CMT4D, in three individuals from a Turkish family with CMT neuropathy. Further studies showed that this intragenic copy-number variation resulted in a homozygous duplication of exons 6-8 that caused decreased mRNA expression of NDRG1. CONCLUSION: Exon-focused high-resolution array comparative genomic hybridization enables the detection of copy-number variation carrier states in recessive genes, particularly small copy-number variations encompassing or disrupting single genes. In families for whom a molecular diagnosis has not been elucidated by conventional clinical assays, an assessment for copy-number variations in known CMT genes might be considered.