OPA1 expression in the human retina and optic nerve

Mutations in the optic atrophy type 1 (OPA1) gene give rise to human autosomal dominant optic atrophy. The purpose of this study is to investigate OPA1 protein expression in the human retina and optic nerve. A rabbit polyclonal antiserum was generated using a fusion protein covering amino acids 647 to 808 of the human OPA1 protein as the immunogenic antigen. Western blot and immunofluorescence staining were performed to examine OPA1 expression in the human retina and optic nerve. In human retina, we found that OPA1 expression was clearly present in retinal ganglion cells and photoreceptors. OPA1 immunoreactivity was also present in the nerve fiber layer, inner plexiform layer and outer plexiform layer. However, OPA1 protein was not detected in the choline acetyltransferase-positive, calretinin-positive, and calbindin-positive amacrine cells, nor in the calbindin-positive horizontal cells. In the human optic nerve, expression of OPA1 was present in the axonal tract that was labeled with neurofilament specific antibody. In conclusion, expression of OPA1 gene is present in the mitochondria-rich regions of the retina and optic nerve. This suggests that OPA1 protein might be involved in the functioning of the mitochondria that are present in both inner and outer retinal neurons.     

Orbital apex syndrome and choroidal metastasis resulting from ovarian carcinoma

Central nervous system involvement from ovarian cancer is rare, and ovarian cancer-related orbital apex syndrome does not appear to have been previously reported. Only a few cases of choroidal metastases from primary ovarian origin have been reported in the literature. We describe what we believe to be the first case of ovarian cancer with the presentation of orbital apex syndrome and choroidal metastasis as a part of the manifestations. Progressively blurring vision and subsequent ophthalmoplegia of the left eye developed in a 37-year-old woman. Funduscopic examination revealed mild disc edema with flame-shaped hemorrhage and a one disc-sized choroidal mass. Cranial magnetic resonance imaging indicated an ill-defined lesion at the left superior orbital fissure with bony erosion. Systemic evaluation demonstrated an ovarian tumor with multiple organ metastases. Although the ophthalmoplegia cleared completely subsequent to chemotherapy and irradiation, visual acuity still remained the same, with no light-perception. The patient died seven months following the initial diagnosis.     

Autosomal Dominant Optic Atrophy: A Spectrum of Disability

Autosomal dominant optic atrophy is an abiotrophy with an insidious onset in the first decade of life. The clinical features of 31 individuals in six pedigrees are detailed in this study. These data suggest that there is considerable intrafamilial and interfamilial expression of dysfunction. Moreover, asymmetry of the visual loss is not unusual. An unexpected result of this study is the previously unreported frequent association of a neural hearing loss with this disorder.     

Drug-induced Optic Neuropathy—TB or Not TB

Autosomal dominant optic atrophy is an inherited optic neuropathy manifesting with variable penetrance and expressivity. Other genetic and environmental factors are postulated to contribute to more marked visual loss in some affected individuals. Optic neuropathy is also a known adverse effect of ethambutol therapy for tuberculosis. This case report demonstrates an atypical presentation of ethambutol toxicity, with progressive profound loss of vision despite drug cessation. A subsequent diagnosis of autosomal dominant optic atrophy was made when the proband's sons presented with mild visual disturbances and color vision defects, confirmed with electrophysiology and OPA1 gene mutational analysis. This case emphasizes the importance of avoiding potentially neurotoxic therapy in predisposed individuals and the influence of environmental factors in patients with inherited optic neuropathies.     

Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation

CASE REPORT: To report the case of a 26-year-old woman with a family history of dominant optic atrophy who requested DNA testing and counselling. Ophthalmologic examination showed her affected father had bilateral temporal papillary pallor. Direct genomic sequencing of the OPA1 gene revealed a novel heterozygous nonsense mutation (Arg879stop). Because no mutation in OPA1 was detected in the daughter, we could counsel her that the possibility was very low that she was a carrier or would pass the disease-causing gene to her children. COMMENTS: Our study provides evidence of the apparent value of molecular genetic analysis of OPA1 gene as predictive DNA testing, although the exact risk and benefit of this type of analysis awaits further study.     

Dominant Optic Atrophy,Deafness, Ptosis,Ophthalmoplegia, Dystaxia,and Myopathy: A New Syndrome

Twenty-three members of a 96-member family exhibited an autosomal dominant disorder which has not previously been described. This disorder involves progressive optic atrophy, abnormal electroretinography without retinal pigment changes, and progressive sensorineural hearing loss usually evident in the first or second decade of life. In midlife, ptosis, ophthalmoplegia, dystaxia, and a nonspecific myopathy occur.     

Axonal loss occurs early in dominant optic atrophy

Purpose: This study set out to investigate retinal nerve fibre layer (RNFL) thickness and best corrected visual acuity (BCVA) in relation to age in healthy subjects and patients with OPA1 autosomal dominant optic atrophy (DOA). Methods: We carried out a cross‐sectional investigation of RNFL thickness and ganglion cell layer density in 30 healthy subjects and 10 patients with OPA1 DOA using optical coherence tomography (OCT). We then performed a regression analysis of RNFL thickness and BCVA versus age. Results: Both healthy subjects and DOA patients demonstrated a gradual reduction in RNFL thickness with age; the relationship was best described statistically by a model that assumed a constant offset between the two groups. Best corrected VA decreased significantly with age in DOA patients, in whom BCVA was correlated with peripapillary RNFL thickness in the inferior and superior peripapillary quadrants and with total macular thickness at eccentricities of 500–3000 μm. The observations were best described by a constant offset of 41.9 μm separating the two groups and an annual decrease in RNFL thickness of 0.48 μm (p < 0.0001). In patients with DOA, increasing age was associated with decreasing BCVA (p = 0.046). Conclusions: This cross‐sectional study found evidence of comparable age‐related decreases in RNFL thickness in healthy subjects and in DOA patients, where the deficit in DOA patients is best described using a model that assumes the deficit between the groups does not vary with age. The gradual reduction of BCVA with age may be a consequence of a relative deficit in RNFL thickness that is established before the second decade of life.     

Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO)

This paper describes a family where chronic progressive external ophthalmoplegia is associated with dominant optic atrophy and progressive sensorineural deafness. This may be a possible association in the same family of two diseases: progressive external ophthalmoplegia and dominant optic atrophy with progressive hearing loss. However, we believe that this family represents an unusual manifestation of ophthalmoplegia plus.     

遗传性视神经病变患者临床表型及基因检测多态性分析——单中心队列研究

目的 分析临床常见遗传性视神经病变(HON)患者基因突变的基因型及临床表现的多样性.方法 2013年5月～2021年10月本院神经眼科中心纳入的拟诊遗传性视神经病变患者,经二代基因测序分析与疾病相关的线粒体环状DNA基因突变,并进行多态性分析.结果 537例拟诊HON患者,其中遗传性视网膜病变88例(16.4％)、视神...     

X-recessive angiopathic opticopathy

A familial optic atrophy with X-recessive heredity, distinct from Leber's optic atrophy (LOA), is described. The symptoms are: slight to moderate pallor of the papillomacular bundle at the disc possibly preceded by some hyperaemia of the disc, telangiectasia on the disc with normal retinal vessels, occurrence in the second decade of life, slow progression with often subclinical visual loss, a small relative central scotoma with an intact peripheral visual field, slight acquired tritanopia and deuteranopia, and vasomotor headaches. The disease may exhibit severe exacerbations with loss of vision to 1/60, provoked by vasoconstrictors and reacting favourably to vasodialators. This acute loss of vision is associated with ischaemia of the disc, a deep central scotoma with marked disturbance of colour vision in the form of an acquired deuteranopia, and sensoparalytic pupils. This is followed by increasing pallor of the disc, slow resolution of the central scotoma with a permanent reduction in the central light sensitivity, markedly disturbed Visual Evoked Potentials (VEP), acquired deuteranopia and normal ERG and EOG.In contrast to all hereditary opticopathies so far described, fluorescein angiography showed a disturbance of perfusion in the peripapillary choroid and the prelaminar part of the optic nerve. A similar disturbance of perfusion is described in anterior ischaemic optic neuropathy (AION) and low-tension glaucoma. To these acquired, non-hereditary vascular opticopathies, which usually occur late in life, will have to be added the X-recessive vascular optic atrophy which we describe here, for which we propose the name: X-recessive angiopathic opticopathy. The differential diagnosis from some other hereditary, especially X-recessive, optic atrophies is discussed.     

Ocular findings in distal arthrogryposis

There are two distinct forms of multiple carboxylase deficiency. A neonatal onset form is due to deficiency of holocarboxylase-synthetase. A later onset form in which neurological abnormalities are seen as well as those of the skin and hair is due to biotinidase deficiency.

It is the purpose of this report to describe a patient with biotinidase deficiency who presents bilateral optic atrophy. The dosage of biotinidase enzyme in the patient's serum and in other members of his family confirms the autosomal recessive transmission of this condition.     

电按摩联合球后注射血管扩张剂治疗视神经萎缩

目的:探讨电按摩联合球后注射血管扩张剂治疗视神经萎缩的疗效及其并发症的原因、结果及防治原则.方法:对行电按摩治疗的132例(243眼)视神经萎缩患者的疗效及并发症的病例资料进行回顾性总结分析.结果:132例243眼总有效率为84.8%(206眼),其中视神经炎性视神经萎缩的有效率为93.7%.8种并发症除1例眼痛3mo完全恢复外,其它均在4 h～10 d内恢复.结论:电按摩治疗视神经萎缩疗效显著,并发症可防可治.     

Pallor of the optic disc in children

This report discusses the subject of pallor of the optic disc from the viewpoint of a paediatric neurologist. The paper is divided into two sections, one on optic atrophy in childhood and the second on optic nerve hypoplasia. Optic atrophy in children is a topic which is very poorly covered in standard textbooks either of neurology or ophthalmology. This review attempts to develop a working approach to the management of children who present with optic nerve atrophy as their primary neurological finding.     

电按摩治疗视神经萎缩临床研究

目的 探讨电按摩治疗视神经萎缩的效果及并发症的原因、结果及防治原则。方法 对行电按摩治疗的167例（279眼）视神经萎缩的病例资料进行回顾性总结分析分析其疗效及并发症。结果 167例（279眼）中，256眼视力及视野得到改善总有效率为91.76%，其中视神经炎性视神经萎缩的有效率为93.20%.术中术后并发症有术中黑矇、球后出血、眼内出血、复视、斜视、上睑下垂、顽固性眼痛及葡萄膜炎等8种。8种并发症除1例眼痛3个月完全恢复外，其它均在4h-1d内恢复。结论 电按摩治疗视神经萎缩疗效较好，并发症可防可治。     

小儿视神经萎缩

视神经萎缩是前视路病变后,视网膜神经节细胞轴突损害,造成视功能缺损及视盘形态学改变的后遗症。小儿视神经萎缩在病理生理机制上类似成人视神经萎缩,但在流行病学、病因分类及临床表现各方面有其特点。我们着重讨论不同病因小儿视神经萎缩的临床特征。     

非青光眼性大视杯临床分析

目的 探讨非青光眼性疾病引起视杯扩大的病因以及鉴别要点,为临床识别非青光眼性大视杯提供依据。设计 回顾性病例系列。研究对象 12例（19眼）非青光眼大视杯患者。方法 分析比较这些患者的病因、视盘形态学特征以及相关影像资料。主要指标 病因、视盘形态特征以及视功能改变。结果 12例患者中,4例为视神经炎,1例视神经脊髓炎,1例Leber遗传性视神经病变,2例垂体瘤,1例基底节脑出血,1例睫状视网膜动脉阻塞合并视网膜中央静脉阻塞,1例视网膜中央动脉阻塞,1例视神经损伤。所有患者视杯呈弥漫性或局限性扩大,盘沿苍白。视野表现为与原发病相应的缺损。结论 各种视神经疾病和视网膜疾病均有可能导致大视杯,它与青光眼性大视杯的鉴别点在于盘沿色泽、有无盘沿局限性缺失以及视功能异常和视盘改变的相关性。（眼科, 2012, 21: 306-309）