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BACKGROUND: Syphilis is a sexually or congenitally acquired infectious disease that can affect multiple organs systems, including the eye. When left undiagnosed and untreated, it can lead to significant morbidity and mortality. Syphilitic optic neuropathy can be difficult to diagnose because it can mimic many other nonsyphilitic causes of optic nerve involvement, leading to delay in treatment. Diagnosing ocular syphilis may be facilitated by assessing for specific outer retina abnormalities on macular optical coherence tomography (OCT). METHODS: This was a case series and case-based systematic review. For the case series, a retrospective chart review was conducted of all patients who presented to a tertiary university-affiliated neuro-ophthalmology practice over 6 months with undifferentiated optic neuropathy and were eventually diagnosed with syphilitic optic neuropathy. For the systematic review, OVID MEDLINE, EMBASE, and COCHRANE CENTRAL databases were searched to identify all cases of syphilitic optic neuropathy with macular OCT. The primary research outcome was the prevalence of cases with outer retinal abnormalities on OCT. RESULTS: Four cases were identified that were eligible for inclusion. The ages ranged from 27 to 62 years old, and 2 of the patients were female. On examination, vision ranged from Snellen 20/50 to hand motion; all patients had optic neuropathy, and macular OCT revealed chorioretinitis characterized by retinal pigment epithelium (RPE) excrescences. The patients subsequently underwent uveitis workup and were diagnosed with syphilis. They were treated with intravenous penicillin and showed improvement in outer retina appearance on follow-up. The systematic review consisted of 24 cases and 35 eyes with syphilitic optic neuropathy and reported macular OCT findings. Eighty-three percent (20/24) were males, and the mean age was 47.7 years (SD: 49.2). The mean visual acuity at presentation was Snellen 20/57. On fundoscopy, 25.7% (9/35) of eyes had vitritis, whereas 22.8% (8/35) had placoid chorioretinal lesions. On OCT, 45.7% (16/35) of eyes had abnormal outer retina findings, most commonly disruption of the ellipsoid zone (EZ) and/or RPE excrescences. All patients were treated with penicillin or ceftriaxone, and final mean visual acuity was Snellen 20/29. CONCLUSIONS: All 4 patients identified in the case series, and nearly half of patients with syphilitic optic neuropathy described in the literature had concurrent-specific outer retina abnormalities (disruption of EZ and/or placoid chorioretinitis in the form of RPE excrescences) seen on macular OCT. We recommend that clinicians obtain macular OCT for all patients presenting with undifferentiated optic neuropathy.
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INTRODUCTION: Bitemporal hemianopia is usually caused by chiasmal pathology. Rarely, chorioretinal lesions may develop symmetrically in both eyes and mimic chiasmopathy. METHODS: This case series included three patients who presented to a tertiary neuro-ophthalmology centre with bitemporal hemianopic defects between 2021 and 2023 and were subsequently diagnosed with bilateral chorioretinopathy. All patients received comprehensive examinations from a fellowship-trained neuro-ophthalmologist and uveitis specialist to rule out other causes of visual dysfunction. RESULTS: Three males aged 64, 62, and 72 years were included. All patients showed bitemporal hemianopic defects crossing the vertical midline on automated perimetry and binasal thinning of the macular ganglion cell complex on spectral-domain optical coherence tomography (OCT). Fundus autofluorescence (FAF) showed classical features of acute zonal occult outer retinopathy (AZOOR) in two patients and central serous chorioretinopathy (CSCR) in another. AZOOR diagnosis was preceded by neuroimaging in both cases, whereas the patient with CSCR had longstanding, electroretinography-confirmed lesions and did not require neuroimaging. Fundus appearance and visual field defects remained stable in all patients across 3-6 months of follow-up. CONCLUSIONS: Bilateral chorioretinopathy should be considered in the differential diagnosis of bitemporal hemianopia in specific cases, including when visual field defects cross the vertical midline and when neuroimaging fails to reveal chiasmal pathology. FAF and macular OCT have high diagnostic yield as initial investigations.
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Hemianopsia , Humanos , Masculino , Persona de Mediana Edad , Hemianopsia/etiología , Hemianopsia/diagnóstico , Anciano , Tomografía de Coherencia Óptica/métodos , Síndromes de Puntos Blancos/diagnóstico , Pruebas del Campo Visual , Coriorretinopatía Serosa Central/diagnóstico por imagen , Coriorretinopatía Serosa Central/diagnóstico , Coriorretinopatía Serosa Central/complicaciones , Campos Visuales/fisiología , Escotoma/diagnóstico , Escotoma/diagnóstico por imagen , Escotoma/etiologíaRESUMEN
PURPOSE: To determine the frequency and severity of further visual loss experienced by patients within ten weeks from diagnosis of acute nonarteritic anterior ischemic optic neuropathy (NAION). DESIGN: Retrospective case series. METHODS: Electronic medical records (EMR) at an academic neuro-ophthalmology practice were searched for diagnosis of "NAION" and all identified charts were reviewed to determine eligibility. Patients diagnosed with acute NAION between February 2014 and December 2023 who presented within four weeks of symptom onset and were seen in follow-up within ten weeks were included. Clinically significant decline in best corrected visual acuity (BCVA) and peripheral VF were defined as decline of BCVA ≥2 Snellen lines and decrease of ≥2 decibels (dB) in mean deviation (MD) on perimetric testing. RESULTS: Forty-nine eyes met inclusion and exclusion criteria. Sixty-seven percent of patients were male and average age at presentation was 66 years. Twenty-two percent of eyes demonstrated worsening of BCVA by ≥2 lines. Of these, 55% worsened by ≥4 lines and 27% by ≥8 lines. In 27% of eyes MD on perimetry worsened by ≥2 dB and in 18% by ≥4 dB. In total, 41% of eyes demonstrated clinically significant worsening of BCVA or VF. CONCLUSIONS: Subacute deterioration of BCVA and/or VF following acute NAION is not uncommon while optic disc edema is present, with sizeable proportion of patients experiencing dramatic visual decline. Deterioration in visual function within the first 10 weeks of presentation does not exclude the diagnosis of NAION and further investigations should only be performed if additional clinical features are discordant with this diagnosis.
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Oclusión de la Arteria Retiniana , Arteria Retiniana , Oclusión de la Vena Retiniana , Humanos , Oclusión de la Vena Retiniana/complicaciones , Oclusión de la Vena Retiniana/diagnóstico , Oclusión de la Arteria Retiniana/etiología , Oclusión de la Arteria Retiniana/complicaciones , Angiografía con Fluoresceína , Arterias , Arterias CiliaresRESUMEN
Purpose: The free bilamellar autograft (FBA) procedure involves harvesting a free, full-thickness section of eyelid tissue from one of the patient's healthy eyelids to reconstruct a large defect of the involved eyelid. No vascular augmentation is employed. The purpose of this study was to determine the structural and cosmetic results of this procedure. Methods: A case series was performed, looking at patients who underwent the FBA procedure for large, full-thickness eyelid defects (>50% eyelid length) between 2009 and 2020 at a single oculoplastic surgical centre. Basal cell carcinomas most frequently met criteria for the procedure. OHSN-REB waived ethics approval. All surgeries were performed by one surgeon. A single operation, with surgical steps reported in detail, was completed with follow-up documentation at ideally 1 day, 1 week, 1 month, 3 months, 6 months, and 1 year. The mean follow-up period was 28 months. Results: Thirty-one patients (17 males, 14 females, mean age 78-years-old) were included in the case series. Comorbidities included diabetes and smoking. Most patients had known basal cell carcinomas removed from the upper or lower eyelid. The mean widths of the recipient and donor sites were 18.8 and 11.5â mm, respectively. All 31 FBA surgeries resulted in structurally functional, cosmetically pleasing, and viable eyelids. Six patients developed minor graft dehiscence, 3 developed an ectropion, and 1 developed mild superficial graft necrosis secondary to frostbite, which fully recovered. Three healing phases were identified. Conclusion: This case series adds to the currently sparse data on the free bilamellar autograft procedure. The surgical technique is clearly articulated and illustrated. The FBA procedure is a simple and efficient alternative to current surgical techniques in the reconstruction of full-thickness upper and lower eyelid defects. The FBA provides functional and cosmetic success, despite the absence of an intact blood supply, with decreased operative time and faster recovery.
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PURPOSE: To report a case of delayed-onset endophthalmitis presenting 14 years after an uncomplicated cataract surgery. METHODS: Case report. RESULTS: An 89-year-old pseudophakic man complained of redness and reduced visual acuity in his right eye. He had no history of trauma or systemic infection, and his only surgery on the right eye was an uncomplicated cataract surgery 14 years before. On physical examination, he was found to have keratic precipitates and a white posterior capsular plaque in the right eye. He was treated with a right pars plana vitrectomy and intraocular lens removal. Microbiological classification of the samples revealed the presence of a Leuconostoc species within the vitreous humor and coagulase-negative staphylococci on the lens. Two months after placement of the intraocular lens, he achieved a best-corrected visual acuity of 20/200 in his right eye. CONCLUSION: To the best of our knowledge, this is the first reported case of delayed-onset endophthalmitis occurring more than 10 years after an uncomplicated cataract surgery. This case highlights a highly unusual presentation of delayed-onset endophthalmitis and reports a potential novel microbiological cause of plaque formation.
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Extracción de Catarata , Catarata , Endoftalmitis , Infecciones Bacterianas del Ojo , Masculino , Humanos , Anciano de 80 o más Años , Implantación de Lentes Intraoculares , Leuconostoc , Endoftalmitis/etiología , Endoftalmitis/microbiología , Extracción de Catarata/efectos adversos , Vitrectomía , Complicaciones Posoperatorias , Infecciones Bacterianas del Ojo/diagnóstico , Infecciones Bacterianas del Ojo/microbiologíaRESUMEN
BACKGROUND: Leber hereditary optic neuropathy (LHON) is a rare but bilaterally blinding disease. Three characteristic disease-causing point mutations, and other less common mutations, are most often found on the mitochondrially encoded genes of NADH-ubiquinone oxidoreductase core subunits (MT-ND). The purpose of this study is to provide an overview of LHON mutations in Southwestern Ontario and to describe the associated demographic and clinical characteristics. METHODS: A retrospective genetic and clinical chart review was performed from January 2015 to 2020. Patients were identified within a mitochondrial mutation database and included if a mutation was detected on the MT-ND1, -ND4, or -ND6 genes. A clinical chart review was done on all available patients. RESULTS: Forty-five of 63 patients identified had classic disease-causing mutations (6.7% m.3460G>A, 44.4% m.11778G>A, and 48.9% m.14484T>C). Several of the remaining 18 patients had rare mutations previously documented in association with LHON. Of the 14 patients with clinical charts accessible for review, 12 had symptomatic disease, and all but one had bilateral optic neuropathies. Nine patients had classic LHON mutations and 3 had possible novel mutations; 7 were males; 9 had final visual acuity ≤ 20/200 in at least one eye; and 6 of those had ≤20/400 in both eyes. CONCLUSIONS: This study adds to the literature on LHON in Canada, and specifically Southwestern Ontario. The demographic and clinical data regarding LHON in this geographic location, as well as possible novel disease-causing mutations, provide important information to aid clinicians in recognizing cases of LHON that may otherwise be disregarded.
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Atrofia Óptica Hereditaria de Leber , Masculino , Humanos , Femenino , Atrofia Óptica Hereditaria de Leber/epidemiología , Atrofia Óptica Hereditaria de Leber/genética , Ontario/epidemiología , Estudios Retrospectivos , ADN Mitocondrial/genética , Mutación/genéticaRESUMEN
BACKGROUND: A significant proportion of on-call resident workload is related to answering and managing pages. Ophthalmology residents see high volumes of patients on call, but little is known about the profile of pages they receive. The objective of this study is to characterize the volume, type, and urgency of pages received by the ophthalmology on-call service. METHODS: A retrospective review of on-call pager log sheets and patient charts was performed at a single academic institution. Data were collected from July to December 2019, sampling the first seven days of each month. Data collected for each page included date/time of day, source, and primary concern. For each page leading to a patient encounter, time from page to patient assessment, patient demographics, and final diagnosis were recorded. Continuous variables were reported as mean values, whereas categorical variables were presented as percentages. A two-sample t-test and single-factor analysis of variance were employed. RESULTS: Over 42 days, 1108 pages were received. Over half of these calls required patient assessment, 71% of which were seen the same day. On average, 26 pages were received in 24 hours. Daytime weekday hours were significantly more busy than weekday nights or weekends (p<0.001). Patients and the emergency department each accounted for almost one-third of calls received. Retina- and cornea-related consults were most common. CONCLUSIONS: Pager volumes in ophthalmology are high and on-call patient volumes are rising. Answering pages increases the on-call resident's workload and has a negative impact on clinic flow. These data can be used to inform resident curriculum development, hospital system changes, patient education regarding appropriate paging, and medical school teaching.
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A young woman presented with significant weight loss and malnutrition secondary to decreased food intake. Her presentation was felt to be consistent with a psychiatric diagnosis of avoidant restrictive food intake disorder (ARFID). She received 3 years of treatment for ARFID, but failed to make significant progress and ultimately required a feeding tube. Incidentally, she noted severe visual field changes at this time, which triggered further workup including an MRI of the head. This revealed the true diagnosis of a suprasellar and pineal germinoma. There are several cases in the literature of germinomas presenting with decreased food intake that were misdiagnosed as anorexia nervosa. However, this is the first reported case of a multifocal germinoma presenting as ARFID. Criteria for the diagnosis of ARFID do not include body image distortion, potentially making this eating disorder more prone to misdiagnosis.
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Trastorno de la Ingesta Alimentaria Evitativa/Restrictiva , Trastornos de Alimentación y de la Ingestión de Alimentos , Germinoma , Desnutrición , Ingestión de Alimentos , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnóstico , Femenino , Germinoma/diagnóstico , Humanos , Desnutrición/diagnóstico , Estudios RetrospectivosRESUMEN
OBJECTIVE: Giant cell arteritis (GCA) is a systemic vasculitis, affecting medium- and large-sized vessels. Temporal artery biopsies (TABs) are currently the benchmark for diagnosing suspected cases of GCA. Often, the temporal artery is "skeletonized," and surrounding soft tissue is discarded at the time of biopsy. The purpose of this study was to identify cases in which diagnoses were made through examination of periadventitial soft tissue in nonskeletonized TABs. DESIGN: Retrospective observational case series and literature review. PARTICIPANTS: Six patients were recruited on a case-by-case basis. INCLUSION CRITERIA: bilateral TABs for suspected GCA and periadventitial findings leading to appropriate diagnosis. EXCLUSION CRITERIA: none. METHODS: A retrospective chart review was performed to collect patient demographics and clinical information in 2 academic institutions in Ontario, Canada. The primary outcome measure was identification of histopathological diagnoses made through examination of periadventitial soft tissue in TABs performed for suspected GCA. RESULTS: Two patients were diagnosed with GCA, one of which had a concurrent diagnosis of chronic lymphocytic leukemia. Four patients were diagnosed with small vessel vasculitis, 3 of which were antineutrophil cytoplasmic antibody-related vasculitides. All patients had evidence of a disease limited to the periadventitial tissue of the TAB. The results are limited by the study's size. CONCLUSIONS: This case series demonstrates that other serious conditions may declare themselves with symptoms similar to that of GCA. We recommend that surgeons perform a nonskeletonized TAB in all cases of suspected GCA and that pathologists adequately examine the periadventitial tissue in these biopsies to ensure appropriate diagnosis.
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Biopsia/métodos , Arteritis de Células Gigantes/diagnóstico , Arterias Temporales/patología , Adventicia/patología , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
PURPOSE: A patient's presentation and clinical diagnosis can at times be clouded by their past medical history. Clinicians' anchoring bias towards initial information, such as a history of cancer, may lead them astray when creating a differential diagnosis for a patient who presents with new signs and symptoms of a mass lesion, assuming metastatic disease without seeking tissue confirmation. METHODS: The presentation, workup, diagnosis, and treatment of two patients who presented with orbital masses in the context of a primary prostate cancer are presented in this report. RESULTS: In both cases, prostate cancer metastasis to the orbit was top on the differential. Ultimately, histopathological examination of biopsies taken from the orbital masses revealed orbital lymphoma in both patients. CONCLUSION: With mounting rates of patients who have survived a previous cancer, multiple primary cancers within one patient are becoming increasingly common. While prostate cancer metastasis to the orbit is a relatively rare event, orbital lymphoma is a more common diagnosis in orbital masses. Therefore, when patients present with orbital masses in the context of prostate cancer, the conclusion should not immediately be metastasis and a tissue diagnosis should be sought; especially given that the treatment of these entities is different.
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The crystal structures of NH(3)-dependent NAD+ synthetase from Bacillus anthracis as the apoenzyme (1.9 A), in complex with the natural catalytic products AMP and pyrophosphate (2.4 A) and in complex with the substrate analog adenosine 5'-(alpha,beta-methylene)triphosphate (2.0 A) have been determined. NAD+ synthetase catalyzes the last step in the biosynthesis of the vitally important cofactor NAD+. In comparison to other NAD+ synthetase crystal structures, the C-terminal His-tagged end of the apoenzyme adopts a novel helical conformation, causing significant compensatory changes in the region. The structural accommodations observed in B. anthracis NAD+ synthetase are remarkable in the absence of adverse affects on enzyme activity. They also illustrate a rare example of the influence of a non-native C-terminal His-tag extension on the structure of a native protein. In contrast to the apoenzyme, when AMP and pyrophosphate or adenosine 5'-(alpha,beta-methylene)triphosphate are bound, the C-terminus adopts a conformation that allows ATP binding and overall the structure then resembles other NAD+ synthetase structures. The structures of NAD+ synthetase complexes from B. anthracis are compared with published X-ray crystal structures of the enzyme from B. subtilis, Escherichia coli and Helicobacter pylori. These comparisons support the novel observation that P1 and P2 loop ordering is not a consequence of crystal contacts but rather a consequence of intrinsic intramolecular interactions within the ordered subunit.
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Amida Sintasas/química , Amida Sintasas/metabolismo , Bacillus anthracis/enzimología , Adenosina Trifosfato/química , Adenosina Trifosfato/metabolismo , Amida Sintasas/genética , Amida Sintasas/aislamiento & purificación , Aminación , Secuencia de Aminoácidos , Apoenzimas/química , Apoenzimas/genética , Apoenzimas/metabolismo , Bacillus anthracis/genética , Sitios de Unión , Secuencia Conservada , Cristalografía por Rayos X , Expresión Génica , Histidina/genética , Histidina/metabolismo , Concentración de Iones de Hidrógeno , Modelos Moleculares , Datos de Secuencia Molecular , Niacina/química , Niacina/metabolismo , Filogenia , Estructura Cuaternaria de Proteína , Estructura Terciaria de Proteína , Alineación de Secuencia , Especificidad por SustratoRESUMEN
The Haas - Drenth - Wilson (HDW) (Haas et al., 1999) theoretical model was used to correlate osmotic second virial coefficient (B) values with solubility (S) values for equine serum albumin (ESA) and ovalbumin for corresponding solution conditions. The best fit from the theoretical model was compared to experimental S versus B data. B values were experimentally measured using static light scattering. Solubilities of ESA were estimated using a sitting drop method. When the experimental data for S versus B were plotted, an excellent fit for ESA was obtained according to the HDW model. The results showed that the coordination number (z) in the crystal lattice was 6, and the adjustable parameter (A) was 0.072. For ovalbumin, previously reported solubility data in aqueous ammonium sulfate solutions were utilized. The solubility data for ovalbumin were correlated with the measured B values obtained in our laboratory. The resulting best fit from the HDW model showed that z = 6 and A = 0.084.