scholarly journals Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Dekang Gan ◽  
Mengwei Li ◽  
Jihong Wu ◽  
Xinghuai Sun ◽  
Guohong Tian
Keyword(s):  
Optic Neuropathy ◽  
Spastic Paraplegia ◽  
Retrospective Case ◽  
Leber Hereditary Optic Neuropathy ◽  
Gene Test ◽  
The Mean ◽  
Retrospective Case Study ◽  
Hereditary Optic Neuropathy ◽  
Sd Oct

Purpose. To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Method. Retrospective case study. Patients diagnosed with hereditary optic neuropathy between January 2014 and December 2015 in the neuro-ophthalmology division in Shanghai Eye and ENT Hospital of Fudan University were recruited. Clinical features as well as visual field, brain/orbital MRI, and spectrum domain optical coherence tomography (SD-OCT) were analyzed. Results. Eighty-two patients diagnosed by gene test were evaluated, including 66 males and 16 females. The mean age of the patients was 19.4 years (range, 5–46 years). A total of 158 eyes were analyzed, including 6 unilateral, 61 bilateral, and 15 sequential. The median duration of the disease was 0.5 year (range, 0.1–20 years). Genetic test identified 68 patients with Leber hereditary optic neuropathy, 9 with dominant optic neuropathy, and 2 with a Wolfram gene mutation. There was also one case of hereditary spastic paraplegia, spinocerebellar ataxia, and polymicrogyria with optic nerve atrophy, respectively. Conclusion. Leber hereditary optic neuropathy is the most common detected type of hereditary optic neuropathy in Shanghai, China. The detection of other autosomal mutations in hereditary optic neuropathy is limited by the currently available technique.

Retrospective case study of carbon dioxide laser stapedotomy with lens-based and mirror-based micromanipulators

2003 ◽  
Vol 117 (4) ◽  
pp. 256-260 ◽  
Author(s):  
Emmanuel Lescanne ◽  
Sylvain Moriniere ◽  
Catherine Gohler ◽  
Aurélia Manceau ◽  
Patrice Beutter ◽  
...  
Keyword(s):  
Carbon Dioxide ◽  
Carbon Dioxide Laser ◽  
Bone Conduction ◽  
Case Series ◽  
Spot Size ◽  
High Tone ◽  
Retrospective Case ◽  
The Mean ◽  
Retrospective Case Study

Most clinical studies on carbon dioxide (CO2) (λ = 10.6.mm) laser stapedotomy have been carried out with the laser guided by a conventional lens-based micromanipulator, with the attendant risks of correct aiming (HeNe) and surgical (CO2) beam misalignment. Hence, engineering advances have attempted to improve laser targeting as well as the spot size focus. The development of the mirror-based micromanipulator was a response to this need but no data concerning its use in stapes surgery is available. We performed a retrospective case-series review of patients treated for otosclerosis between 1992 and 2000. Primary laser stapedotomy was performed in 218 consecutive patients. In the first 78 procedures, the aiming beam (HeNe, λ = 632 nm) and surgical beam (CO2) were guided with a conventional lens-based micromanipulator whereas in the subsequent 140 procedures, they were guided by using a mirror-based micromanipulator. Hearing was tested at six and 12 months. The mean (SD) air-bone gap was 5 dB (4.5) and 4.5 dB (3.9). The mean closure was 15 dB (9.9) and 14.4 dB (9.4). The mean change in the high-tone bone-conduction level was 5.5 dB (7.3) and 7.8 dB (7.5). Overheating of the facial canal produced transient facial paralysis in one case and was due to misalignment of the beams with the lens-based micromanipulator. Use of the mirror-based micromanipulator obviated the need to verify alignment. The light-weight and superior optical yield of this system made it possible to reduce the number of impacts on the footplate by the integral restitution of the energy source. This study demonstrated that the CO2 laser is an effective method for performing stapedotomy. In addition, microtrauma to the labyrinth is reduced by its ability to perform calibrated footplate fenestration without mechanical or vibrational injury to the inner ear. The optical reflection micromanipulator simplified beam alignment and enhanced surgical comfort.

scholarly journals Analysis of Visual Field Defects Obtained with Semiautomated Kinetic Perimetry in Patients with Leber Hereditary Optic Neuropathy

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Katarzyna Nowomiejska ◽  
Agnieszka Kiszka ◽  
Edyta Koman-Wierdak ◽  
Katarzyna Tonska ◽  
Ryszard Maciejewski ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
Optic Neuropathy ◽  
Automated Perimetry ◽  
Central Scotoma ◽  
Leber Hereditary Optic Neuropathy ◽  
Kinetic Perimetry ◽  
Central Island ◽  
The Mean ◽  
Hereditary Optic Neuropathy

Purpose. To analyse visual field (VF) defects obtained using semiautomated kinetic perimetry (SKP) in patients suffering from Leber hereditary optic neuropathy (LHON). Methods. Twenty-two eyes of eleven consecutive LHON male patients with confirmed mitochondrial 11778G>A DNA mutation were prospectively examined with the V4e stimulus of SKP in both eyes. The mean time after the onset of LHON was one year. The area of obtained isopters was measured in square degrees (deg2). Additionally, static automated perimetry (SAP) within 30° was performed. Results. Visual acuity ranged from counting fingers to 50 cm to 0.4. VFs obtained with SKP showed central scotomas in 18 eyes (82%); the periphery of the VF in these eyes remained intact. The mean area of central scotoma was 408.8 deg2, and the mean area of the peripheral VF was 12291.1 deg2; SAP also revealed central scotoma in these patients. In four eyes (18%) with the worst visual acuity, only the residual central island of VF was found using SKP (mean area 898.4 deg2). SAP was difficult to obtain in these patients. Conclusions. SKP provides additional clinical information in regard to the visual function of LHON patients. SKP enables the quantification of the area of central scotoma, preserved peripheral VF, and residual central island of vision. Using V4 stimulus is especially useful in LHON patients with poor visual acuity, when SAP is difficult to obtain.

Technology and Hospital Information System: A Case of Implementation of Electronic Clinical Records in Hospital Maternity Irene Neto in Lubango, Angola

2019 ◽  
Vol 10 (11) ◽  
pp. 1131-1135
Author(s):  
Tomas Hambili Paulo Sanjuluca ◽  
◽  
Ricardo Correia ◽  
Anabela Antunes de Almeida ◽  
Ana Gloria Diaz Martinez ◽  
...  
Keyword(s):  
Maternity Hospital ◽  
Management Support ◽  
Retrospective Case ◽  
System A ◽  
Clinical Records ◽  
Retrospective Case Study ◽  
The Impact ◽  
And Child Health

Introduction: In order to have a good assessment of the quality of maternal and child health care, it is essential that there is up-to-date and reliable information. Objective: To evaluate the impact of the implementation of a computerized database of clinical processes in the admission, archive and medical statistics section, of Maternity hospital Irene Neto/Lubango-Angola. Methodology: A descriptive study with a quantitative and qualitative approach to carry out a retrospective case study deliveries and newborns, records from 2014 to 2017. Final considerations: The implementation of this project may contribute to the improvement of clinical management support management of the hospital as well as facilitating access to information for research and scientific production.

Clinical features of vision improvement in patients with Leber hereditary optic neuropathy

2020 ◽  
pp. 47-49
Author(s):  
N.L. Sheremet ◽  
◽  
N.A. Andreeva ◽  
N.V. Zhorzholadze ◽  
M.S. Shmelkova ◽  
...  
Keyword(s):  
Clinical Features ◽  
Optic Neuropathy ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

Leber Hereditary Optic Neuropathy - Idebenone, Hope of Treatment

2020 ◽  
Vol 70 (12) ◽  
pp. 4244-4247
Keyword(s):  
Mitochondrial Dna ◽  
Visual Field ◽  
Optic Neuropathy ◽  
Mitochondrial Function ◽  
Dna Analysis ◽  
Central Vision ◽  
Leber Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Analysis ◽  
Hereditary Optic Neuropathy

Leber hereditary optical neuropathy (LHON) is part of the class of optic neuropathies in which the mitochondrial function is impaired and is characterized by a painless, subacute, bilateral decrease of the central vision. We shall present the case of two brothers AM aged 31 and AT aged 40 who were diagnosed with LHON and whom we initiated treatment with idebenone 900 mg / day with monitoring at one month and 6 months. The mitochondrial DNA analysis demonstrated the existence of mutations 11778G>A for the mtND4 gene in both patients. Idebenone is a synthetic benzoquinone, analogue of ubiquinone. We found a slight but significant improvement in the visual field in patient AM at one month of treatment. We have not found another case in the literature with an improvement in vision so fast after this treatment, and this has led us to write this article. Keywords: Leber hereditary optical neuropathy (LHON), idebenone, mutations 11778G>A, mtND4 gene

Paranasal Sinus Mucocele Clinical, imagistic and biochemical aspects

2018 ◽  
Vol 69 (8) ◽  
Author(s):  
Doina Vesa ◽  
Cristian Martu ◽  
Razvan Leata ◽  
Ludmila Lozneanu ◽  
luminita Radulescu ◽  
...  
Keyword(s):  
Facial Asymmetry ◽  
Retrospective Case ◽  
Mri Scans ◽  
The One ◽  
Ethmoid Sinuses ◽  
Retrospective Case Study ◽  
Cellular Components ◽  
Ct And Mri

Paranasal mucoceles are a type of cysts that evolve slowly and are asymptomatic; this poses a difficulty in diagnosing the patient because the symptoms can go unnoticed. The mucocele evolves unpredictably. On the one hand, it can become infected turning into pyoceles and on the other hand, it can invade important regions such as the orbital, cranial or genian regions, creating facial asymmetry. This is a retrospective case study of 37 patients diagnosed with sinus mucoceles, followed up by clinical examination and paraclinical tests such as CT and MRI scans. The biochemical components of the liquid from within the mucocele were analyzed and the following criteria were recorded: NaCl-, Cl-, Na+ and cholesterine as well as cellular components such as mastocytes, macrophages, hematocytes and leucocytes. In all cases, the treatment option was surgery with favorable post-operative and follow-up evaluation. The mucoceles that appeared post-operatively (maxillary and ethmoid sinuses) evolved more rapidly than the mucoceles that were induced byan external injury. Longer follow-up of operated patients permitted a more timely diagnosis of recurrences.

scholarly journals A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 202
Author(s):  
Rasa Liutkeviciene ◽  
Agne Sidaraite ◽  
Lina Kuliaviene ◽  
Brigita Glebauskiene ◽  
Neringa Jurkute ◽  
...  
Keyword(s):  
Optic Neuropathy ◽  
Vision Loss ◽  
European Medicines Agency ◽  
Visual Recovery ◽  
Leber Hereditary Optic Neuropathy ◽  
Diagnostic Features ◽  
Mitochondrial Respiratory Chain Complex ◽  
Male Predominance ◽  
Mtdna Mutations ◽  
Hereditary Optic Neuropathy

Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the 15–35 years of age with male predominance. LHON is associated with severe, subacute, painless bilateral vision loss and account for one of the most common causes of legal blindness in young individuals. Spontaneous visual acuity recovery is rare and has been reported in patients harbouring m.14484T>C mutation. Up to date LHON treatment is limited. Idebenone has been approved by European Medicines Agency (EMA) to treat LHON. However better understanding of disease mechanisms and ongoing treatment trials are promising and brings hope for patients. In this article we report on a patient diagnosed with LHON harbouring rare m.11253T>C mutation in MT-ND4 gene, who experienced spontaneous visual recovery. In addition, we summarise clinical presentation, diagnostic features, and treatment.

scholarly journals Treatment strategies for Leber hereditary optic neuropathy

2019 ◽  
Vol 32 (1) ◽  
pp. 99-104 ◽  
Author(s):  
Neringa Jurkute ◽  
Joshua Harvey ◽  
Patrick Yu-Wai-Man
Keyword(s):  
Optic Neuropathy ◽  
Treatment Strategies ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy
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