scholarly journals The electrophysiological features of X-linked juvenile retinoschisis in a young male: a case report

2022 ◽  
Vol 50 (1) ◽  
pp. 030006052110395
Author(s):  
Weiming Yan ◽  
Yunpeng Wang ◽  
Qian Ye ◽  
Xiaohong Chen ◽  
Yanjin Chen ◽  
...  

This case report describes the detailed electrophysiological features and the corresponding relationship with the structural changes in a case of X-linked juvenile retinoschisis (XLRS). A 25-year-old male presented with a history of several years of decreased visual acuity in both eyes. The best corrected visual acuity was 20/200 in oculus dexter (OD) and 20/80 in oculus sinister. Retinoschisis was found in the macula by optical coherence tomography, which was more severe in OD. Electroretinogram revealed a similar electronegative waveform in both eyes. Visual evoked potential detected a reduced amplitude and delayed phase in P100-wave, which was worse in OD. The patient was diagnosed as XLRS and advised to undergo continuous medical observation. He was followed up for the next year, with no significant change in retinal function and structure being observed. These current findings suggest that electrophysiology permits the detailed analysis of the clinical picture of XLRS and helps to gain a deeper understanding of the pathogenesis.

2021 ◽  
pp. 112067212110287
Author(s):  
Michele Nicolai ◽  
Maria Jolanda Carpenè ◽  
Nicola Vito Lassandro ◽  
Paolo Pelliccioni ◽  
Vittorio Pirani ◽  
...  

Purpose: The purpose of this study is to report our experience with a case of punctate inner choroidopathy (PIC) reactivation following COVID-19. Case report: A 29-year-old caucasian woman with past ophthalmological history of bilateral PIC reported sudden visual acuity decrease in her right eye (RE) 3 weeks after SARS-CoV-2 infection. Her best-corrected visual acuity (BCVA) was 20/32 in RE; fundus examination and multimodal imaging (including indocyanine-green angiography, fundus autofluorescence, and optical coherence tomography) was consistent with unilateral PIC reactivation. The active choroidal lesions responded to high-dose corticosteroids, with functional improvement. Conclusion: Sars-CoV-2 infection could induce autoimmune and autoinflammatory dysregulation in genetically predisposed subjects. We report a case of PIC reactivation following COVID-19.


2021 ◽  
Vol 13 ◽  
pp. 251584142110277
Author(s):  
Zahra Ashena ◽  
Thomas Hickman-Casey ◽  
Mayank A. Nanavaty

A 65-year-old patient with history of keratoconus, mild cataract and penetrating keratoplasty over 30 years ago developed corneal oedema subsequent of graft failure with best corrected visual acuity (BCVA) of counting fingers. He underwent a successful cataract surgery combined with a 7.25 mm Descemet’s Membrane Endothelial Keratoplasty (DMEK) with Sodium Hexafluoride (SF6) gas. His cornea remained oedematous inferiorly at 4 weeks, despite two subsequent re-bubbling due to persistent DMEK detachment inferiorly. This was managed by three radial full thickness 10-0 nylon sutures placed in the inferior cornea along with intracameral injection of air. Following this, his anterior segment ocular coherence tomography (OCT) confirmed complete attachment of the graft, and the sutures were removed 4 weeks later. Unaided visual acuity was 20/63 and BCVA was 20/32 after 8 months. DMEK suturing can be helpful in persistent DMEK detachments, which is refractory to repeated re-bubbling due to uneven posterior surface of previous PK.


Author(s):  
Rami Z. Morsi ◽  
Faten El Ammar ◽  
Sonam Thind ◽  
Scott J. Mendelson ◽  
Cedric McKoy ◽  
...  

Introduction : There are no studies investigating the safety and efficacy of covered stent grafts, particularly the newly developed stents such as the PK Papyrus stent, for endovascular treatment of direct carotid cavernous fistulas (CCFs). Methods : We present a case of a 75‐year‐old female who presented to the hospital with a three‐week history of worsening left eye vision, chemosis, proptosis, and partial third nerve palsy. Patient was found to have left direct Type A CCF secondary to ruptured cavernous segment carotid aneurysm. Results : The CCF was treated with coil embolization and pipeline Shield stent embolization devices with immediate stagnation and improvement of symptoms. Patient had history of an aortic mechanical valve and thus was started on warfarin and ASA. After achieving INR level of 2.5‐3.5, patient started to have recurrent swelling of the left eye associated and decreased visual acuity. Repeated diagnostic cerebral angiogram revealed residual CCF. Onyx liquid embolization and a Surpass Evolve Flow Diverter were attempted to slow the fistulization with no success. Multiple attempts for direct percutaneous superior ophthalmic vein cannulation were also unsuccessful. At this point, two coronary graft‐covered PK Papyrus stents were implanted across the fistula pouch, which resulted in immediate resolution of the CCF with evidence of persistent normal flow within left ophthalmic artery. Patient’s visual acuity and left eye movement improved. Conclusions : This case report highlights the effectiveness and safety of covered stent grafts, particularly more flexible stents such as the PK Papyrus stent, in navigating the carotid vasculature and closing direct CCFs and may be used as a first‐line technique. More large‐scale studies are warranted to investigate the safety and efficacy of using such stent grafts to treat direct CCFs in the setting of antithrombotic agents and anticoagulation.


2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Godwin Tong ◽  
Kieran Groom ◽  
Louisa Ward ◽  
Muhammad Naeem

Dissociation is a disconnection between a person’s thoughts, memories, feelings, actions, or sense of who he or she is. Dissociative disorders can be described and understood using the combination of five core symptoms: amnesia, depersonalisation, derealisation, identity confusion, or identity alteration. They are frequently associated with previous experience of trauma. The challenge in diagnosis and the lifetime prevalence of approximately 10% in the general population and clinical psychiatric setting ensures the relevance of this case. We write about a 21-year-old gentleman with history of autism and obsessive compulsive disorder, but no significant medical history was presented to the emergency department with increased anxiety, subsequently progressing to agitation, pacing, and becoming nonverbal. No significant findings were uncovered on laboratory blood testing (other than prolactin 737 mu/L and phosphate 0.35 mmol/L), lumbar puncture, or brain imaging. Consequently, he was admitted to a psychiatric unit for assessment. The patient continued to present with severe disorientation, limited speech, and altered state of consciousness with occasional spastic-like movements. Antipsychotic and benzodiazepine medication was initiated, with no significant change in presentation. The patient continued to be witnessed wandering and having incoherent speech. First signs of improvement came 21 days postadmission with brief conversation and lucidity. This continued to improve over the next 7 days where he was reported to be at his baseline mental state. Environmental stressors including university examinations, the COVID-19 pandemic, and recent contact with his estranged father were possible precipitants to the episode. The patient reported almost complete unawareness of the psychiatric admission. A diagnosis of dissociative disorder, unspecified, was given. This case shows the management and diagnostic challenges of patients presenting with the aforementioned symptoms. There are no formal guidelines for the management of treating dissociative episodes, and this case report suggests the possible benefits of a drug-free period of watchful waiting upon admission.


2020 ◽  
Author(s):  
Natasha Faye Daniels ◽  
Raiiq Ridwan

Necrotising fasciitis is a rapidly progressing soft tissue infection associated with significant morbidity and mortality. We present a case of cervical necrotising fasciitis with mediastinal extension in a diabetic young male who was COVID-19 positive. He presented with a five-day history of left-sided neck swelling which was fluctuant, red and painful. Subsequent debridement and management of the wound were complicated by the comorbid SARS-CoV2 infection due to potential need for proning. This case highlights the complex interplay between the management of two significant conditions; the surgical approach to necrotising fasciitis and the concern of deterioration due to COVID-19.


Author(s):  
Rekadi Srinivasa Rao ◽  
Senthil Kumar ◽  
R. Anantharamakrishnan ◽  
P. Varadaraju

Introduction: Scrotal tuberculosis (TB) is rare and may present as painful scrotal swelling with ulceration and discharging sinus. Case Report: A 28 years male with 2 months history of swelling and pain over left scrotum. Developed ulcer over the scrotal region with multiple sinus associated with pus discharge. Conclusion: The clinical presentation of TB scrotal ulcer can be atypical and a high index of suspicion is required for early diagnosis. Diagnosis is by using ultrasonography, microbiology, and biopsy. Treatment requires prolonged ATT for 6 months.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Yuka Kasuya ◽  
Yuji Inoue ◽  
Satoru Inoda ◽  
Yusuke Arai ◽  
Hidenori Takahashi ◽  
...  

Abstract Background The chorioretinal inflammatory lesions occurring in punctate inner choroiditis evolve into punched-out atrophic scars. Typically, the progression is gradual. We report a case of highly myopic punctate inner choroiditis with rapid progression of chorioretinal atrophy. Case presentation A 48-year-old Japanese woman with high myopia presented with decreased visual acuity. Best-corrected visual acuity was 20/28 in the right eye and 20/16 in the left eye; axial length was 29.0 mm and 28.7 mm, respectively. Fundoscopy revealed an epiretinal membrane in the left eye. Three years later, the best-corrected visual acuity in the left eye had decreased to 20/33; at this time, the patient underwent vitrectomy with epiretinal membrane and internal limiting membrane peeling in this eye. Six months later, the best-corrected visual acuity in the left eye decreased suddenly to 20/100. Optical coherence tomography showed a nodule-like lesion in the outer retina with disruption of the retinal pigment epithelium and a focally thickened choroid, compatible with PIC. One month later, the choroidal thickness had decreased. The central chorioretinal atrophy expanded rapidly at a rate of 0.45 mm2/year over the next 3 years, and new areas of patchy focal chorioretinal atrophy developed in the perifovea. Conclusions Rapid progression of chorioretinal atrophy was observed in a patient with punctate inner choroiditis. Because punctate inner choroiditis is often associated with degenerative myopia, the retina is fragile and may be susceptible to mechanical damage. This case report alerts clinicians to the need for careful management of patients with punctate inner choroiditis, especially after vitrectomy.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Chaoxiong Cui ◽  
Zhanyu Zhou ◽  
Yi Zhang ◽  
Ding Sun

Abstract Background This article is a case report of pseudoxanthoma elasticum (PXE) which was diagnosed based on significant angioid streaks (AS) with choroidal neovascularization (CNV) and regain normal visual function by intravitreal injection with Conbercept. Case presentation A 51-year-old woman was referred to the Ophthalmology Department of Qingdao Municipal Hospital (Qingdao, China) on September 14, 2020 for metamorphopsia and loss of vision in the left eye in the preceding three days. Past history: high myopia for more than 30 years, best corrected visual acuity (BCVA) of both eyes was 1.0 (5 m Standard Logarithm Visual Acuity chart in decimal notations), hypertension for six years, and cerebral infarction two years ago, no history of ocular trauma or surgeries or similar patients in family was documented. We used methods for observation, including fundus examination, optical coherence tomography (OCT), fluorescein angiography combined with indocyanine green angiography (FFA + ICGA). Due to her symptoms and manifestations, along with the appearance of her neck skin, which resembled ‘chicken skin’, we speculated that she should be further examined at the Department of Dermatology by tissue paraffin section and molecular pathology analyses, and the diagnosis of PXE was then confirmed. After intravitreal injection with Conbercept (10 mg/ml, 0.2 ml, Chengdu Kanghong Biotechnologies Co., Ltd.; Chengdu, Sichuan, China) she regained her BCVA. Conclusions This patient regained her best corrected visual acuity through intravitreal injection with Conbercept. To the best of our knowledge, no publications are available on cases in which a vision loss and the normal visual function can be reverted by intravitreal injection with Conbercept. Although PXE is a disease with low incidence and thus no effective cure established, targeted symptomatic treatment can effectively retard the disease progression and improve visual function, such as intravitreal injection with Conbercept.


2018 ◽  
Vol 29 (3) ◽  
pp. NP5-NP8 ◽  
Author(s):  
Evdoxia-Maria A Karasavvidou ◽  
Georgios P Athanasopoulos ◽  
Anastasios G Konstas ◽  
Eleni A Tsirampidou ◽  
Paris G Tranos

Introduction: The purpose of this report is to describe a case of Valsalva retinopathy in an intranasal cocaine user. Case report: A 49-year-old male presented with a history of sudden loss of vision and inferior visual field defect in his left eye. Clinical evaluation of the affected eye showed best corrected visual acuity of 20/25 and fundus examination revealed a preretinal hemorrhage superior to the disk with multiple intraretinal hemorrhages in and around the posterior pole. On further questioning, the patient revealed intranasal cocaine use the day before the onset of his visual symptoms. Blood tests were requested to exclude blood dyscrasias or predisposition to vascular occlusive disorders and no further treatment measures were taken. The patient was reviewed a month later when his hemorrhages had completely resolved and his visual acuity had improved to 20/20. His blood results were within normal limits. Conclusion: Although never been reported before, Valsalva retinopathy can be associated with intranasal cocaine abuse and should be considered in the differential diagnosis of visual reduction in such population.


2019 ◽  
Vol 7 (1) ◽  
pp. 284
Author(s):  
Sanjeev Chowksey ◽  
Satish Deshmukh ◽  
Samrudhi Kalbande

We present a unique case of a colonic lithobezoar in a relatively healthy, young male with no history of psychological or psychiatric disorders. Furthermore, unlike previously reported cases, this patient had no history of gastric surgery. The mode of presentation and the rariety of disease pose difficulties in diagnosis of lithobezoar. The different modalities of treatment, both surgical and nonsurgical, were thought of and discussed. The diagnosis of a lithobezoar in a healthy patient requires a high index of suspicion, as it presents with nonspecific symptoms. The standard treatment for bezoars is discussed but lithobezoar needs special mention due to its rariety and no specific surgery guidelines.


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