scholarly journals Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two  Siblings

2021 ◽  
Author(s):  
Tugce Horozoglu Ceran ◽  
Berrak Sekeryapan Gediz ◽  
Kenan Sonmez
Keyword(s):  
Case Reports ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Delayed Diagnosis ◽  
Atypical Presentation ◽  
Gyrate Atrophy ◽  
Previous Diagnosis ◽  
History Of ◽  
Transferase Deficiency ◽  
Hereditary Condition

Abstract Gyrate atrophy is a hereditary condition characterized by ornithine amino transferase deficiency related large areas of retinal pigment epithelium and choriocapillaris lobular shaped atrophy in the peripherial retina. In this report, we present a case of atypical presentation of gyrate atrophy. The aim of this report is to present two siblings, one of which was associated with lamellar macular hole and with a history of previous diagnosis of retinitis pigmentosa. The delayed diagnosis of gyrate atrophy was made only after her brother, who was 5 years younger than her was diagnosed with gyrate atrophy. In addition, in this report, we evaluated gyrate atrophy in terms of multimodal imaging findings, differential diagnosis and treatment of macular complications.

scholarly journals Diagnosis and Monitoring of Choroidal Osteoma through Multimodal Imaging

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Theodoros Empeslidis ◽  
Usman Imrani ◽  
Vasileios Konidaris ◽  
Fizza Mushtaq ◽  
Pandelis Fotiou ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Subretinal Fluid ◽  
Interesting Case ◽  
Choroidal Neovascularisation ◽  
Optical Biopsy ◽  
Fundus Fluorescein Angiography ◽  
Choroidal Osteoma ◽  
History Of

A 16-year-old Caucasian female with a 6-month history of decreased visual acuity and metamorphopsia in the left eye is reported. The fundus of the left eye revealed a well defined lesion in the macula region. Diagnosis of choroidal osteoma was established using spectral domain optical coherence tomography (OCT), fundus fluorescein angiography (FFA), indocyanine green angiography (ICG), and B-scan ultrasonography. Subretinal fluid (SRF) and retinal pigment epithelium (RPE) detachment were noted in the absence of obvious classic choroidal neovascularisation (CNV). The patient was followed up for over 13 months without any treatment in the interim and the lesion was noted to have enlarged but visual acuity and SRF had remained stable. We report an interesting case where subretinal fluid was noted in the absence of evident choroidal neovascularisation and provide an example of the imaging modalities application in the era of “optical biopsy.”

scholarly journals Underestimating the Burden of Disease in Sarcomatoid Carcinoma of The Lung: A Case Report and Literature Review

2019 ◽  
pp. 1-7
Author(s):  
Laleh Melstrom ◽  
Indra M. Newman ◽  
Jae Kim ◽  
Laleh Melstrom ◽  
Massimo D’Apuzzo ◽  
...  
Keyword(s):  
Past History ◽  
Inflammatory Marker ◽  
Delayed Diagnosis ◽  
Sarcomatoid Carcinoma ◽  
Lower Abdominal Pain ◽  
Perforated Appendicitis ◽  
Sexual History ◽  
Atypical Presentation ◽  
Testicular Pain ◽  
History Of

Acute appendicitis is one of the most common emergency surgical procedure, yet atypical presentation sometimes can be challenging for clinician. I present a case of 19-year-old gentleman that initially presented with 1day history of bilateral testicular pain and lower abdominal pain. His past history includes a positive sexual history. Initial ultrasound of the testis showed bilateral orchitis and an equivocal appendix. With a significantly raised inflammatory marker and highly suspicious for appendicitis, a CT scan was obtained which showed perforated appendicitis and the patient underwent laparoscopic appendicectomy with resolution of symptoms after that. We encourage clinician to be aware of this clinical pitfall as patient can sometimes be managed in other department to minimise any delayed diagnosis or any unnecessary procedure

scholarly journals Role of Autofluorescence in Inflammatory/Infective Diseases of the Retina and Choroid

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Ahmed Samy ◽  
Sue Lightman ◽  
Filis Ismetova ◽  
Lazha Talat ◽  
Oren Tomkins-Netzer
Keyword(s):  
Case Reports ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Visual Outcome ◽  
Posterior Uveitis ◽  
Fluorescent Properties ◽  
Promising Tool ◽  
Noninvasive Imaging Technique

Fundus autofluorescence (FAF) has recently emerged as a novel noninvasive imaging technique that uses the fluorescent properties of innate fluorophores accumulated in the retinal pigment epithelium (RPE) to assess the health and viability of the RPE/photoreceptor complex. Recent case reports suggest FAF as a promising tool for monitoring eyes with posterior uveitis helping to predict final visual outcome. In this paper we review the published literature on FAF in these disorders, specifically patterns in infectious and noninfectious uveitis, and illustrate some of these with short case histories.

Mania and Down's Syndrome

1993 ◽  
Vol 162 (6) ◽  
pp. 739-743 ◽  
Author(s):  
Sally-Ann Cooper ◽  
Richard A. Collacott
Keyword(s):  
Learning Disabilities ◽  
Family History ◽  
Affective Disorder ◽  
Clinical Features ◽  
Case Reports ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atypical Presentation ◽  
Rapid Cycling ◽  
History Of

Until recently, it was considered that Down's syndrome precluded a diagnosis of mania, or gave rise to an atypical presentation. There have been seven case reports of mania in people with Down's syndrome and all these cases are reviewed. The clinical features of mania are noted to be similar to those previously described in individuals with learning disabilities due to other causes. However, all reported cases are male and none has a family history of affective disorder. In two of the seven men reported, the illness followed a rapid cycling pattern. Hypothyroidism and monoamine biochemistry in people with Down's syndrome are discussed in the context of these atypical features.

scholarly journals Traumatic submacular hemorrhage: available treatment options and synthesis of the literature

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Giamberto Casini ◽  
Pasquale Loiudice ◽  
Martina Menchini ◽  
Francesco Sartini ◽  
Stefano De Cillà ◽  
...  
Keyword(s):  
Intravitreal Injection ◽  
Case Reports ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Treatment Options ◽  
Young Patients ◽  
Treatment Strategies ◽  
Mechanical Damage ◽  
Invasive Treatment ◽  
Pneumatic Displacement

AbstractSub-macular hemorrhage (SMH) is a hematic collection between the neurosensory retina and the retinal pigment epithelium; one of its causes is ocular blunt trauma, that usually affects young patients. Persisting SMH leads to a damage of photoreceptors mediated by three main mechanisms: iron-related toxicity, impairment of diffusion of oxygen and nutriment, mechanical damage due to clot contraction. Since early photoreceptors’ damage has been reported within 24 h, it is suggested to provide an early treatment, although there are no guidelines or consensus between authors regarding treatment strategies. The aim of this review was to present and compare available treatment options, like intravitreal tissue plasminogen activator (tPA) associated with pneumatic displacement, pneumatic displacement alone, subretinal tPA injection with pneumatic displacement, and intravitreal anti-vascular endothelial growth factor (VEGF) injection. All procedures obtained consistent results, though the most effective seemed to be pars plana vitrectomy, subretinal tPA and gas tamponade, probably due to a quicker liquefaction and displacement of the clot. Limitations concern the greater invasiveness and the higher incidence of complications. Alternatively, intravitreal injection of tPA and gas may represent a less invasive option with fewer complications. Intravitreal injection of gas and prone position could be preferred in young patients without coexisting ocular pathology, being a minimally invasive treatment, with lower risk of complications and a good visual recovery. Anti-VEGF agent have found, to date, limited employment in cases of traumatic SMH even though they may be useful as alternative or adjuvant therapy. Most of the published literature consists of small studies and case reports, therefore further investigations and larger clinical trials are required to fully understand safety and efficacy of the procedures. A preoperative comprehensive evaluation may be helpful to realize a surgical plan tailored on patient.

Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy

2017 ◽  
Vol 27 (6) ◽  
pp. e179-e183 ◽  
Author(s):  
Elena Piozzi ◽  
Salvatore Alessi ◽  
Silvia Santambrogio ◽  
Giovanni Cillino ◽  
Marco Mazza ◽  
...  
Keyword(s):  
Carbonic Anhydrase ◽  
Macular Edema ◽  
Cystoid Macular Edema ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Carbonic Anhydrase Inhibitor ◽  
Gyrate Atrophy ◽  
First Case ◽  
Membrane Bound ◽  
Inflammatory Drugs

Purpose Gyrate atrophy of the choroid and retina (GACR) is a rare chorioretinal dystrophy characterized by a deficiency of the enzyme ornithine aminotransferase, inherited in an autosomal recessive pattern. Case Report We report a case of a 17-year-old girl with GACR, for whom the level of serum ornithine had been reduced by an arginine-restricted diet. The patient was responsive to an association of topical nonsteroidal anti-inflammatory drugs (NSAIDs) and a carbonic anhydrase inhibitor (CAI) to reduce cystoid macular edema (CME). Conclusions The efficacy of topical NSAIDs and systemic CAI association indicates that the imbalance in the distribution of retinal pigment epithelium membrane-bound carbonic anhydrase could play a major role in CME pathogenesis in GACR. To our knowledge, this is the first case of therapy with CAI treatment for GACR-related CME.

Sign in / Sign up

Export Citation Format

Share Document