线粒体脑肌病的眼底病变

目的 观察线粒体脑肌病患者眼底病变的特点、分类及其与全身性表现的关系.方法 回顾性病例研究.对内科住院治疗的88例线粒体脑肌病患者的临床资料进行分析,其中确诊线粒体脑肌病并经眼科会诊发现眼底异常、病历记录资料完整的12例24只眼纳入研究.男性9例,女性3例;年龄14～33岁,平均年龄(20.1±7.0)岁.病程2.5～20.0年,平均病程(9.5±6.8)年.患者均有不同程度的眼外症状,包括肢体无力、听力下降及中枢神经系统症状等.眼科检查行国际标准视力表最佳矫正视力、裂隙灯显微镜、间接检眼镜检查.非接触眼压计眼压检查,上睑下垂情况、眼球运动、瞳孔反射等检查和眼底彩色照相.行荧光素眼底血管造影(FFA)检查3例、光相干断层扫描(OCT)检查1例、视网膜电图(ERG)检查2例,视野检查5例.根据检查结果将视网膜病变分为"椒盐状"眼底、视网膜色素变性(RP)样眼底、视网膜色素上皮(RPE)和脉络膜毛细血管萎缩、单纯视神经萎缩等4种类型.回顾分析时同时观察与全身病变的关系.结果 所有患者均为双眼发病,双侧病变程度基本一致.出现上睑下垂和(或)眼球运动障碍者9例,占75.0%;视力下降者6例,占50.0%."椒盐状"眼底者6例12只眼,占有眼底异常改变者50.0%.表现为视网膜颗粒状色素沉着和脱色素;视力0.4～1.2;均无听力下降、抽搐、共济失调、智力减退等中枢神经系统表现.RP样眼底者1例2只眼,占有眼底异常改变者8.3%.表现为视网膜骨细胞样色素沉着、视网膜血管变细、视神经萎缩;双眼视力光感,伴有智力低下、听力下降、双下肢疼痛及发作性抽动.RPE和脉络膜毛细血管萎缩者3例6只眼,占有眼底异常改变者25.0%.可见暴露的脉络膜大血管,周围视网膜可见片状色素堆积;视力跟前手动～0.7;肢体无力2例;听力下降3例;言语不清、智力下降2例;嗜睡1例.单纯视神经萎缩者2例4只眼,占有眼底异常改变者16.7%.视力0.1～0.7;均有肢体无力、抽搐、智力下降、头痛等中枢神经系统表现.结论 线粒体脑肌病患者眼底改变分为"椒盐状"眼底、RP样眼底、RPE和脉络膜毛细血管萎缩和单纯视神经萎缩等4种类型.眼底病变类型与视力预后和中枢神经系统表现有关.

Retinal manifestations of mitochondrial encephalomyopathy

Objective To observe the retinal manifestations and classification of mitochondrial encephalomyopathy,and explore the relationship between retinopathy and systemic manifestations. Method The clinical data of 88 in-patients with mitochondrial encephalomyopathy were retrospectively analyzed,in whom 12 patients (24 eyes) with retinal manifestations who diagnosed by ophthalmology consultation and complete medical records were collected. There were nine males and three females aged from 14 to 33 years with the mean age of(20. 1±7. 0)years. The disease duration ranged from 2. 5 to 20 years,with the mean of (9. 5±6. 8)years. All the patients had the eye symptoms of the different degree,such as limbs weakness, hearing decline and central nervous system symptoms. Ophthalmologic examination including best corrected visual acuity, slit lampa microscope, indirect ophthalmoscopy, non-contact Tonometer, ptosis, ocular movement,pupillary reflex and color fundus photography. Among the patients, three, one, two and five patients had undergone fundus fluorescein angiography (FFA), optical coherence tomography (OCT), lectroretinogram(ERG)and visual field examination respectively. Diabetic retinopathy were divided into "salt and pepper", retinitis pigmentosa(RP), retinal pigment epithelium ( RPE), choroidal capillary atrophy and simplex optic atrophy according to the inspection results. Results All the patients' both eyes were involved,the disease degree of bilateral eyes was accordant. The ptosis and(or)eye movement limitation were found in nine patients(75.0%) ,and decreased visual acuity was in six patients(50. 0%). "Salt and pepper" was found in six patients(12 eyes) ,presenting retinal granular pigmentation and depigmentation;the visual acuity was 0. 4-1. 2;no central nervous system symptoms were found in patients, such as hearing decline, twitch,ataxia and hypophrenia. RP was found in one patient(two eyes) ,presenting retinal cells sample pigmentation, retinal vessel shrink, optic atrophy (the vision were light perception in both eyes;hypophrenia, hearing decline, bilateral lower limbs pain and onset twitch were also found in them. RPE and choroidal capillary atrophy were found in three patients (six eyes), the choroidal great vessels and flake pigment accumulation surrounding the retina were observed;the visual acuity was hand movement-0. 7;limbs weakness was found in two patients;hearing decline was found in three patients;barylalia and hypophrenia were found in two patients;somnolence was found in one patient. Simplex optic atrophy was found in two patients(four eyes);the vision was 0. 1-0. 7;central nervous system symptoms were found in patients,such as limbs weakness, twitch, hypophrenia and headache. Conclusion Retinopathy types is concerned with visual prognosis and central nervous system symptoms.