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 inpatients 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，noncontact 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 movement0.7；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.
ObjectiveMitochondrial encephalomyopathy is a series of diseases that drag in central nervous system and generalized muscles. The pathogenesis of the disease is lack of ATP for the dysfunction of mitochondria. The misdiagnosis rate of the disease is high and the purpose of this study is to improve the recognition and diagnosis of mitochondrial encephalomyopathy and thus, clinicians could take rational treatment in time and improve patients' prognosis. MethodsThe clinical data of 11 patients with mitochondrial encephalomyopathy were analyzed including the physical data, clinical presentations, laboratory data, neuroimaging findings, muscle biopsy, genetic testing, treatment and prognosis. Reviewing literature and summarizing the clinical characteristics of mitochondrial encephalomyopathy. ResultsAmong the 11 patients with mitochondrial encephalomyopathy, the mean age was 17 years old. 1 case had family history. 7 cases were misdiagnosed in the first clinic visit. The onset of the 11 cases, 9 were paroxysmal and 2 were hidden. In the course, 10 cases had an epileptic seizure. Among the 9 cases who took the determination of serum lactate, 8 was in high level.9 cases had MRI examination and all found abnormality, 10 patients had EEG examination, and 9 cases found abnormality, 6 cases had muscle biopsy and all found the ragged red fiber(RRF). 6 cases had molecular genetic testing, and all found mutations in mitochondrial DNA. Among the 10 cases who had epileptic seizure, 3 cases can be controlled with single kind of antiepileptic drug. The other 7 cases had a recurrence of epilepsy with single kind of antiepileptic drugs, but can be cotrolled after drug adjusting or drug combination. ConclusionMitochondrial encephalomyopathy is often accompanied by seizure, which is usually found in children, and also often accompanied by systemic muscle symptoms. The clinical manifestations of the disease is not typical, but is complex and varied symptoms, so the clinical misdiagnosis rate is high. Mitochondrial encephalomyopathy mainly involves the main intracranial artery distribution area (parietal lobe, temporal lobe, occipital lobe, etc.) in central nervous system, and can involve more than one part. Patients with mitochondrial myopathy brain are usually detected the elevation of serum lactate levels, but if the lactic acid level is normal, it does not rule out the possibility of the disease, the confirmation of the disease is mainly by muscle biopsy or genetic tests. There is no specific treatment for mitochondrial encephalomyopathy till now, and it still give priority to symptomatic treatment. And the prognosis is poorer.