scholarly journals Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wenxue Guan ◽  
Ge Wang ◽  
Feng Hu ◽  
Xiaoyan Peng
Keyword(s):  
Vitamin B6 ◽  
Rare Complication ◽  
Late Phase ◽  
Partial Regression ◽  
Gyrate Atrophy ◽  
Case Presentation ◽  
Corrected Visual Acuity ◽  
Chinese Girl ◽  
Drug Adverse Effects ◽  
Sd Oct

Abstract Background To report a case of genetically confirmed gyrate atrophy (GA) of choroid and retina, who showed partial regression of foveoschisis following vitamin B6 supplementary therapy. Case presentation A 6-year-old Chinese girl complained about night blindness and progressive decreased vision in both eyes. Her best corrected visual acuity (BCVA) was 20/63 OD and 20/100 OS. Fundus examination showed bilateral multiple, sharply demarcated, scallop-shaped chorioretinal atrophy areas in the midperipheral and peripheral of the fundus. Spectral domain optical coherence tomography (SD-OCT) showed increased central macular thickness (CMT) with multiple intraretinal cystic spaces in the both eyes. There was no leakage or staining in the macular area in late phase of fluorescein angiography (FA). Blood tests confirmed hyperornithinemia and genetic analysis revealed two heterozygous mutations on ornithine aminotransferase (OAT) gene. Based on clinical presentation and genetic test, the patient was diagnosed as GA of the choroid and retina and further treated with vitamin B6 supplementary for three weeks. Her serum ornithine levels did not change but CMT on SD-OCT declined with partial regression of intraretinal cystic spaces. Then, the patient discontinued the drug because of severe muscle pain, and foveoschisis increased to initial level a month later. Conclusions Foveoschisis is a rare complication of GA. Vitamin B6 supplementation may alleviate foveoschisis, but its effort for reducing serum ornithine level might be limited. Potential drug adverse effects should be noted in pediatric patients.

scholarly journals Atypical Presentation of Intestinal Intussusception Caused by Insidious Inflammatory Myofibroblastic Tumor of the Bowel Wall

2017 ◽  
Vol 102 (7-8) ◽  
pp. 345-350
Author(s):  
Shuo Dong ◽  
Xiaoying Xie ◽  
Linsheng Zhao ◽  
Guanghua Pei
Keyword(s):  
Physical Examination ◽  
Inflammatory Myofibroblastic Tumor ◽  
Bowel Wall ◽  
Early Recognition ◽  
Rare Complication ◽  
Abdominal Mass ◽  
Case Presentation ◽  
Intestinal Intussusception ◽  
Chinese Girl ◽  
Operative Findings

Introduction: Inflammatory myofibroblastic tumor (IMT) is a rare but real tumor, which is histologically characterized by myofibroblastic spindle cells proliferation with inflammatory infiltrate. The lung is the most common affected organ, and extrapulmonary IMTs are less common. However, IMT seldom presents in the gastrointestinal tract, and intussusception is a rare complication of this tumor. Case presentation: We documented this rare case of a 12-year-old Chinese girl presenting with abdominal pain. The clinical and radiologic impression was bowel intussusception and bowel obstruction. No sign of abdominal mass was found before surgery, neither physical examination nor radiologic images. Operative findings revealed intestinal intussusception secondary to a little mass. Histopathlogic evaluation of this mass revealed IMT. Conclusion: In conclusion, IMT may present with bowel intussusception. However, at the intestinal location, the tumor may be found as an abdominal mass or may be insidious; hence, detailed history, physical examination, and imaging studies are necessary for early recognition and diagnosis.

scholarly journals Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Sibel Doguizi ◽  
Mehmet Ali Sekeroglu ◽  
Mustafa Alpaslan Anayol ◽  
Pelin Yilmazbas
Keyword(s):  
Visual Acuity ◽  
Macular Edema ◽  
Peripheral Zone ◽  
Restricted Diet ◽  
Comprehensive Understanding ◽  
Gyrate Atrophy ◽  
Case Presentation ◽  
Corrected Visual Acuity

Introduction. Gyrate atrophy is a rare genetical metabolic disorder affecting vision. Here, we report a 9-year-old boy with gyrate atrophy associated with bilateral macular edema at the time of diagnosis and the effect of long term metabolic control on macular edema.Case Presentation. A 9-year-old boy presented with a complaint of low visual acuity (best corrected visual acuity: 20/80 in both eyes, refractive error: −12.00 D). Dilated fundus examination revealed multiple bilateral, sharply defined, and scalloped chorioretinal atrophy areas in the midperipheral and peripheral zone. Spectral-domain optical coherence tomography revealed bilateral cystoid macular edema in both eyes. Serum ornithine level was high (622 μmol/L). An arginine-restricted diet reduced serum ornithine level (55 μmol/L). However, visual findings including macular edema remained unchanged in 2 years of follow-up.Conclusion. Arginine-restricted diet did not improve macular edema in our patient with gyrate atrophy. A more comprehensive understanding of the underlying factors for macular edema will lead to the development of effective therapies.

scholarly journals Immediate post partum macular subretinal bleeding in a highly myopic patient: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Karen Bitton ◽  
J.-L. Bacquet ◽  
F. Amoroso ◽  
S. Mrejen ◽  
M. Paques ◽  
...  
Keyword(s):  
Valsalva Maneuver ◽  
Post Partum ◽  
Pathologic Myopia ◽  
Pathological Myopia ◽  
Case Presentation ◽  
Sudden Loss ◽  
Corrected Visual Acuity ◽  
First Case ◽  
History Of ◽  
Macular Hemorrhage

Abstract Background Pathologic myopia is a major cause of visual impairment and blindness. Case presentation We report a case of an immediate post partum macular subretinal bleeding observed in a highly myopic patient. A 30-years-old woman presented two days after childbirth for sudden loss of vision in her right eye. Multimodal imaging showed macular hemorrhage masking a subtle yellowish linear lesion corresponding to lacker crack. Due to the lack of evidence for choroidal neovascularization, a simple clinical and imaging monitoring was recommended. Six weeks later, we noted an improvement in her best-corrected visual acuity and a decreased in size of the macular hemorrhage. Conclusions This is the first case reporting a macular subretinal bleeding on macular lacquer cracks in a highly myopic patient in immediate post partum. Valsalva maneuver associated with vaginal delivery could explain the occurrence of the hemorrhage associated with lacquer crack. However, natural history of pathological myopia could not be excluded.

scholarly journals Morphological Changes in Lamellar Macular Holes According to SD-OCT Examination over a Long Observation Period

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1145
Author(s):  
Magdalena Kal ◽  
Izabela Chojnowska-Ćwiąkała ◽  
Mateusz Winiarczyk ◽  
Monika Jasielska ◽  
Jerzy Mackiewicz
Keyword(s):  
Retinal Thickness ◽  
Morphological Changes ◽  
Outer Diameter ◽  
Corrected Visual Acuity ◽  
Macular Holes ◽  
Kolmogorov Smirnov ◽  
Inner Diameter ◽  
Observation Period ◽  
Sd Oct

Background: The aim of this study was to evaluate the quantitative morphological changes in lamellar macular holes (LMHs) based on SD-OCT examinations and to assess the correlations among minimal retinal thickness (MRT), reading vision (RV), and best corrected visual acuity (BCVA) over a 36-month follow-up period. Methods: A group of 40 patients (44 eyes) with LMH was evaluated, with an average age of 69.87 (SD = 10.14). The quantitative parameters monitored in the follow-up period (at 0, 3, 6, 12, 18, 24, 30, and 36 months) were tested for normality of distribution by Shapiro–Wilk and Kolmogorov–Smirnov tests. Results: The RV and BCVA values were stable, and no significant changes were found at any of the check-ups during the 36-month follow-up period (BCVA p = 0.435 and RV p = 0.0999). The analysis of individual quantitative LMH parameters during the 36-month follow-up period did not demonstrate statistically significant differences: MRT (p = 0.461), Max RT temporal (p = 0.051), Max RT nasal (p = 0.364), inner diameter (ID) (p = 0.089), and outer diameter (OD) (p = 0.985). Conclusions: The observations at 0, 6, 12, 18, 24, 30, and 36 months revealed moderate and significant correlations between RV and MRT. No significant correlation between BCVA and MRT was observed.

scholarly journals Surgical procedure for unexpected balloon burst complication during endoscopic balloon dilatation in a patient with common bile duct stones

2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Koji Morishita ◽  
Hideaki Sasaki
Keyword(s):  
Bile Duct ◽  
Common Bile Duct ◽  
Balloon Dilatation ◽  
Rare Complication ◽  
Common Bile Duct Stones ◽  
Endoscopic Retrograde ◽  
Case Presentation ◽  
Endoscopic Balloon Dilatation ◽  
Cbd Stones ◽  
Endoscopic Balloon

Abstract Background Endoscopic balloon dilatation (EBD) is the established treatment for common bile duct (CBD) stones. Although pancreatitis and bleeding have been reported as major complications of EBD, balloon-related complications are rarely reported in EBD. Case presentation A 30-year-old woman with suspected CBD stones underwent endoscopic retrograde cholangiopancreatography (ERCP) and EBD. During EBD, the balloon of the EBD catheter suddenly burst at the biliary sphincter. We therefore performed surgical intervention: removal of the broken EBD catheter and T-tube drainage. Finally, the patient was discharged without any complications. Conclusions We present a case involving a burst balloon of an EBD catheter as a rare complication during EBD, as well as the surgical technique that was used to treat this complication.

scholarly journals Euphorbia grandicornis Sap Keratouveitis: A Case Report

2016 ◽  
Vol 7 (1) ◽  
pp. 125-129
Author(s):  
María Gómez-Valcárcel ◽  
Graciana Fuentes-Páez
Keyword(s):  
Complete Resolution ◽  
Sesquiterpene Lactones ◽  
Sodium Hyaluronate ◽  
Conjunctival Hyperemia ◽  
Blurred Vision ◽  
Case Presentation ◽  
Corrected Visual Acuity ◽  
Dexamethasone Phosphate ◽  
Best Corrected Visual Acuity ◽  
Extraction Spectrophotometry

Purpose: To describe a case of keratouveitis caused by Euphorbia grandicornis sap, that resolved with topic steroids. Methods: We report a case presentation of a patient with keratouveitis. Results: A 70-year-old woman suffered from accidental ocular contact with E. grandicornis sap in her left eye. Two hours after the contact, she attended the clinic due to conjunctival hyperemia and pain. Best-corrected visual acuity (BCVA) was 20/25. The toxic conjunctivitis was treated with topical lubricant and steroid. After 24 h, she presented blurred vision. BCVA was 20/80. Toxic keratouveitis was diagnosed. Topical treatment with 1% cyclopentolate t.i.d., 5% sodium chloride, 1.14% dexamethasone phosphate each hour, and 4% sodium hyaluronate each hour was continued. Complete resolution was obtained 1 week later. Euphorbia sap content analysis was performed using dissolvent extraction spectrophotometry. Its contents included flavonoids, alkaloids, phenols and sesquiterpene lactones. Conclusion: Corneal exposure to E. grandicornis sap is a cause of nonvisually threatening keratouveitis when adequately treated with corticosteroids.

Sub-Threshold Micro Pulse Laser (810NM): Treatment for Chronic Central Serous Retinopathy

2021 ◽  
Vol 37 (2) ◽  
Author(s):  
Mariam Shamim Kashif ◽  
Najia Uzair ◽  
Lubna Feroz ◽  
Asaad Mehmood
Keyword(s):  
Retinal Thickness ◽  
Case Series ◽  
Central Retinal Thickness ◽  
Central Serous Retinopathy ◽  
Invasive Treatment ◽  
Micropulse Laser ◽  
Corrected Visual Acuity ◽  
Best Corrected Visual Acuity ◽  
Sd Oct

Purpose:  To find the effectiveness of sub-threshold (810nm) micropulse diode laser treatment (SMT) in chronic central serous retinopathy (CSR). Study Design:  Interventional case series. Place and Duration of Study:  Layton Rahmatulla benevolent trust eye hospital, from April 2019 to July 2020. Methods:  The patients of chronic CSR (≥ 6 months) participated in the study. We used Spectral Domain Optical coherence tomography (SD-OCT) to record baseline central retinal thickness (CT). Best corrected visual acuity (BCVA) was recorded with Snellen’s chart and converted to Log MAR for statistical analysis. All patients underwent treatment with sub-threshold laser (810nm) in micropulse mode with 5% duty cycle (DC). Results:  Twenty five eyes with chronic CSR were enrolled in the study. The patients were treated with laser and final assessment was made at 6 months. Mean BCVA at presentation was 0.46 Log MAR ± 0.12 and a mean baseline CT of 362.2 μm ± 32.6µm. At final follow-up there was a mean decrease in CT of 97.2 μm ± 21.8 from the baseline. After treatment mean BCVA was 0.33 Log MAR ± 0.12 and mean CT was 266 μm ± 20.9. Nineteen out of twenty-five eyes (76%) achieved a gain of vision between 1 to 3 lines and gain of 3 lines was achieved in 8% of cases. At the final follow-up there was incomplete resolution of sub retinal fluid in 4 eyes (16%) with no improvement in BCVA. Conclusion:  SMT (810 nm) is an effective and minimally invasive treatment modality for chronic CSR. Key Words:  Sub-Threshold micropulse laser, Central serous retinopathy, Central retinal thickness, sub retinal fluid.

scholarly journals Pars Plana Vitrectomy Combined with Focal Endolaser Photocoagulation for Idiopathic Macular Telangiectasia

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Gaku Terauchi ◽  
Celso Soiti Matsumoto ◽  
Kei Shinoda ◽  
Harue Matsumoto ◽  
Yutaka Imamura ◽  
...  
Keyword(s):  
Fluorescein Angiography ◽  
Pars Plana Vitrectomy ◽  
Late Phase ◽  
Macular Telangiectasia ◽  
Before And After ◽  
Antiangiogenic Drugs ◽  
Pars Plana ◽  
Idiopathic Macular Telangiectasia ◽  
Sd Oct

Background. To report the outcome of pars plana vitrectomy (PPV) combined with intraoperative endolaser focal photocoagulation (PC) on eyes with idiopathic macular telangiectasis (MacTel) type 1.Methods. This was a retrospective study of two female patients with MacTel type 1 who were resistant to focal photocoagulation, sub-Tenon triamcinolone injection, and/or antiangiogenic drugs. The best-corrected visual acuity (BCVA) was determined, and fluorescein angiography (FA) and spectral domain optical coherence tomography (SD-OCT) were performed before and after surgery for up to 19 months.Results. After surgery, the BCVA gradually improved from 20/100 to 20/20 at 19 months in Case 1 and from 20/50 to 20/13 at 13 months in Case 2. Fluorescein angiography (FA) showed leakage at the late phase, and OCT showed that the cystoid macular edema was resolved and the fovea was considerably thinner postoperatively.Conclusion. Patients with MacTel type 1 who are refractory to the other types of treatments can benefit from PPV combined with intraoperative endolaser focal PC with functional and morphological improvements.

scholarly journals Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases

2021 ◽  
Author(s):  
Margarita Mauro-Herrera ◽  
John Chiang ◽  
Bojana Radojevic ◽  
Lea D Bennett
Keyword(s):  
Genetic Disorders ◽  
Functional Evaluation ◽  
Retinal Diseases ◽  
Cell Therapies ◽  
Clinical Assessments ◽  
Kinetic Perimetry ◽  
Corrected Visual Acuity ◽  
Dna Variants ◽  
Uncertain Significance ◽  
Sd Oct

Inherited retinal diseases (IRD) comprise a heterogeneous set of clinical and genetic disorders that lead to blindness. Given the emerging opportunities in precision medicine and gene thera-py, it has become increasingly important to determine whether DNA variants with uncertain significance (VUS) are responsible for the patients’ IRD. This research was performed to assess the functional consequence of six VUS identified in patients with IRD. Clinical assessments in-cluded an ophthalmic examination, best corrected visual acuity, and kinetic perimetry. Imaging was acquired with the Optos ultra-widefield camera and spectral-domain optical coherence to-mography (SD-OCT). Genetic testing was performed by Molecular Vision Laboratories. VUS that were predicted to alter splicing were analyzed with a minigene assay which revealed that VUS in the genes OPA1, CNGB1, and CLUAP1 altered spicing mechanisms. Due to the emerging gene and cell therapies, these results expand the genotype-phenotype correlations for patients diag-nosed with an IRD.

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