Objective: To investigate the clinical efficacy of liver transplantation in the treatment of acute liver in children with NBAS gene deficiency disease and their outcome. Methods: This retrospective study enrolled children with NBAS gene deficiency who were admitted to the Children's Hospital of Fudan University for liver transplantation from January 2013 to June 2022. The clinical data were collected and analyzed. Medical literature published before June 2022 was searched with the keywords of "NBAS" "neuroblastoma amplified sequence recurrent" "acute liver failure" "SOPH syndrome" "short stature with optic nerve atrophy" "Pelger-Huët anomaly" in PubMed, China National Knowledge Infrastructure and Wanfang database. Results: Liver transplantation was performed in 3 patients (2 males and 1 female) with NBAS deficiency. All patients presented with fever-triggered recurrent acute liver failure. The genetic detection found compound heterozygous NBAS gene pathogenic variants in them. The total episodes of acute liver failure before liver transplantation were 11, 2, and 4 respectively, and the age at liver transplantation was 3.5, 2.3, and 2.0 years respectively. During liver transplantation, patient 1 was in the convalescent phase of acute liver failure, patient 2 was in the acute phase, presenting with hepatic encephalopathy (grade V) and respiratory failure, and patient 3 was considered to be in the acute phase. After liver transplantation, patient 1 recovered normal liver function within 1 month and had no liver transplantation-related complications. Patient 2 had secondary epilepsy, intellectual disability, movement disorder, and transiently elevated transaminases. Patient 3 died of severe infection within 1 month. There was no literature in Chinese, 6 in English, 8 NBAS-deficient patients who were treated with liver transplantation. Total 11 patients presented with fever-triggered recurrent acute liver failure. Their age at liver transplantation ranged from 0.9 to 5.0 years. Postoperative complications occurred in 3 patients. Until the last visit, they were followed up for 0.7 to 14.0 years. Total 2 patients died and the 9 surviving patients did not develop acute liver failure. Conclusions: Liver transplantation is effective for the treatment of acute liver failure associated with NBAS gene disease. However, postoperative complications of liver transplantation may occur. The timing of liver transplantation still needs further research.
Child ; Male ; Humans ; Female ; Infant ; Child, Preschool ; Retrospective Studies ; Neoplasm Proteins/genetics* ; Optic Atrophy/genetics* ; Pelger-Huet Anomaly/genetics* ; Liver Failure, Acute/complications*

A 32-year-old man with blurred vision in the right eye and headache presented with anterior uveitis, an intraocular pressure (IOP) of 60 mmHg, an open angle, no visual field defects, and normal optic nerve. He had a history of five previous similar attacks. In each of the previous instances, his anterior uveitis and high IOP were controlled with antiglaucoma medications and topical steroids. However, at the fifth attack, his optic disc was pale and a superior paracentral visual field defect was shown. Brain magnetic resonance image studies were normal. This case represents that a recurrent Posner-Schlossman syndrome (PSS)-induced optic disc atrophy likely due to ocular ischemia caused by a recurrent, high IOP. Although PSS is a self-limiting syndrome, we should manage high IOP and prevent ischemia of the optic nerve head by treating with ocular antihypertensive medications.
Atrophy/diagnosis/etiology ; Diagnosis, Differential ; Glaucoma, Open-Angle/*complications/diagnosis/physiopathology ; Humans ; *Intraocular Pressure ; Male ; Optic Disk/*pathology ; Optic Nerve Diseases/diagnosis/*etiology/physiopathology ; Syndrome ; Young Adult

Acupuncture Therapy ; Adult ; Aged ; Combined Modality Therapy ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Glaucoma ; complications ; surgery ; Humans ; Male ; Middle Aged ; Optic Atrophy ; drug therapy ; etiology ; physiopathology ; therapy ; Vision, Ocular

We report here the records of 10 consecutive Korean patients (10 eyes) with ocular toxoplasmosis which showed the typical clinical manifestations with seropositivity for Toxoplasma gondii specific IgG antibodies by micro-ELISA between 2006 and 2010. Nine patients were males and 1 was female; their age was 50.5+/-13.8 years. The most common accompanying signs were vitritis (100%), anterior uveitis (70%), and scattered white deposit (80%). Pre-existing retinochoroidal scar was found in 1 (10%) patient. All patients received antiparasitic chemotherapy and systemic corticosteroid treatment, which resolved the presenting attack and recovered the visual acuity better than initial one in 9 patients and worse in 1. Optic atrophy, cataract, and retinal neovascularization were observed during the follow-up period and recurrence was detected in 3 eyes (30%) 6 to 20 months after the initial attack. In Korea, although rarely detected and reported, ocular toxoplasmosis needs more attention in clinical field of retinal diseases.
Adrenal Cortex Hormones/administration & dosage ; Adult ; Age Distribution ; Aged ; Anti-Inflammatory Agents/administration & dosage ; Antibodies, Protozoan/*blood ; Antiprotozoal Agents/administration & dosage ; Cataract/pathology ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Immunoglobulin G/blood ; Korea ; Male ; Middle Aged ; Optic Atrophy/pathology ; Retinal Neovascularization/pathology ; Sex Distribution ; Toxoplasma/immunology/*isolation & purification ; Toxoplasmosis, Ocular/complications/*diagnosis/drug therapy/*pathology ; Uveitis, Anterior/complications/drug therapy/parasitology/pathology

The purpose of our study was to evaluate the characteristics and the changes of low vision patients over ten years in Korea, and to establish useful data for planning low vision services, active care and rehabilitation. We conducted a retrospective study of 681 low vision patients who visited two low vision clinics in Seoul from 1995 to 2008. Age and sex distribution, cause of low vision, type of prescribed low vision aids, and changes of the characteristics were reviewed. In result, male were more than female. The age group between 11 and 20-yr-old (18.1%) was the largest age group. Optic atrophy (28.3%) was main causes of low vision. However, elderly low vision patients is increasing and macular degeneration is becoming a leading cause of low vision (P<0.05). One thousand five low vision aids (LVAs) were prescribed for 681 patients (1.46+/-0.62 aids for each patient). Near LVAs were prescribed more than distance LVAs. In most patients, the use of LVAs improved both near and distance visual function. This study is the first survey of a large number of low vision patients over a ten year period in Korea. On the base of this study, the planning of low vision services and more active rehabilitation for low vision patients, especially elderly patients, need in Korea.
Adolescent ; Adult ; Age Distribution ; Age Factors ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; Humans ; Macular Degeneration/complications ; Male ; Middle Aged ; Optic Atrophy/complications ; Republic of Korea ; Retrospective Studies ; Sex Factors ; Vision, Low/*etiology

We describe a Korean family presenting with pediatric-onset, progressive, generalized dystonia with bilateral striatal necrosis and the homoplasmic G14459A mutation in the mitochondrial ND6 gene. The G14459A mutation has been reported in families presenting with Leber hereditary optic neuropathy (LHON) alone, LHON plus dystonia, or pediatric-onset dystonia. The proband had shown dysarthria, progressive generalized dystonia, and spasticity at 5 yr. Brain MRI demonstrated bilateral striatal necrosis. Additional investigation of family members revealed the presence of homoplasmic G14459A mutation in asymptomatic individuals. The clinical manifestation of the homoplasmic G14459A mtDNA mutation within the same family showed asymptomatic or pediatric-onset dystonia, without optic neuropathy. This study reemphasizes that the G14459A mutation is a candidate mutation for maternally inherited dystonia, regardless of optic neuropathy, and supports the hypothesis that nuclear genes may play a role in modifying the clinical expression of mitochondrial disease.
Adult ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Brain/pathology ; Dystonia/complications/diagnosis/*genetics ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Mitochondrial Diseases/complications/diagnosis/*genetics ; NADH Dehydrogenase/*genetics ; Necrosis ; Optic Atrophy, Hereditary, Leber/genetics ; Pedigree ; *Point Mutation ; Republic of Korea

PURPOSE: To characterize the features of peripapillary atrophy (PPA), as imaged by spectral-domain optical coherence tomography (SD-OCT). METHODS: SD-OCT imaging of the optic disc was performed on healthy eyes, eyes suspected of having glaucoma, and eyes diagnosed with glaucoma. From the peripheral beta-zone, the retinal nerve fiber layer (RNFL), the junction of the inner and outer segments (IS/OS) of the photoreceptor layer, and the Bruch's membrane/retinal pigment epithelium complex layer (BRL) were visualized. RESULTS: Nineteen consecutive eyes of 10 subjects were imaged. The RNFL was observed in the PPA beta-zone of all eyes, and no eye showed an IS/OS complex in the beta-zone. The BRL was absent in the beta-zone of two eyes. The BRL was incomplete or showed posterior bowing in the beta-zone of five eyes. CONCLUSIONS: The common findings in the PPA beta-zone were that the RNFL was present, but the photoreceptor layer was absent. Presence of the BRL was variable in the beta-zone areas.
Adult ; Aged ; Bruch Membrane/pathology ; Female ; Glaucoma/*complications ; Humans ; Male ; Middle Aged ; Nerve Fibers/pathology ; Optic Atrophy/*diagnosis/*etiology ; Optic Disk/*pathology ; Photoreceptor Cells, Vertebrate/pathology ; Retina/pathology ; Retinal Pigment Epithelium/pathology ; Tomography, Optical Coherence/*methods

OBJECTIVE: To analyze the unilateral image of the traumatic optic nerve atrophy using optical coherence tomography (OCT) and to explore the relationship between the optic nerve atrophy and visual acuity or visual field. METHODS: Fifteen cases with traumatic optic nerve atrophy were studied. All cases were tested by routine opthalmological examination, visual evoked potentials (VEP) and optic disc examination with OCT. In cases with visual acuity more than 0.1 the visual field was tested. RESULTS: All cases had visual acuity and visual field defect at various levels and optic disc retinal nerve fiber layer (RNFL) atrophy. CONCLUSION The traumatic optic atrophy begins in the temporal area of optic disc. The nasal area's atrophy occurs at the last and is the mildest. The more serious is the optic nerve atrophy, the worse is the vision function impairment. OCT is a valuable technique for evaluating the optic nerve atrophy and has good correlation with the visual function.
Adolescent ; Adult ; Eye Injuries/complications* ; Female ; Humans ; Male ; Middle Aged ; Optic Atrophy/etiology* ; Tomography, Optical Coherence/methods* ; Vision Disorders/physiopathology* ; Visual Acuity ; Visual Fields ; Young Adult

OBJECTIVETo assess therapeutic effect of combined treatment of Chinese medicine and western medicine on optic atrophy complicated by cerebral palsy.

METHODSOne hundred and seventeen cases were divided into an observation group (n = 79) and a control group (n = 38). The control group were treated with routine western medicine treatment including neurotrophic drugs and high pressure oxygen, etc. and the observation group with acupuncture at Ganshu (BL 18), Pishu (BL 20), Chengqi (ST 1), etc. and injection of 0.2-0.3 mL Compound Danshen Injectio into Qiuhou (EX-HN 7), on the basis of the same treatment of western medicine as that in the control group. Fundus examination and the tracing body angle detection were conducted before and after treatment and the therapeutic effects were assessed in the two groups.

RESULTSThe total effective rate was 91.1% in the observation group and 60.5% in the control group with a significant difference between the two groups (P < 0.001); after treatment the angle of tracing body significantly increased in the two groups (P < 0.01) with the observation group better than the control group (P < 0.01).

CONCLUSIONThe combined treatment of Chinese medicine and western medicine is an effective therapy for optic atrophy complicated by cerebral palsy.

Acupuncture Therapy ; Cerebral Palsy ; complications ; Combined Modality Therapy ; Drug Therapy ; Female ; Humans ; Infant ; Male ; Optic Atrophy ; therapy

PURPOSE: The surgical outcome of diabetic vitrectomy, prognostic factors influential to development of postoperative complications and possible risk factors of postoperative neovascular glaucoma which is main cause of blindness were evaluated. METHODS: The medical records of 56 eyes in 51 patients who underwent vitrectomy for proliferative diabetic retinopathy were reviewed. RESULTS: Anatomical success was achieved in 50 eyes (89%) and vision better than 5/200 in 39 eyes (70%) of 56 eyes that had undergone vitrectomy due to diabetic retinopahty. Statistically significant improvement of vision was obtained among the patients who had preoperative visual acuity of 5/200 or better (p<0.05). Postoperative complication such as neovascular glaucoma proved to be detrimental to visual outcome. The causes of poor visual outcome included neovascular glaucoma, optic atrophy, cataract, macular edema, subretinal hemorrhage, macular subretinal fibrosis, and vitreous hemorrhage. Neovascular glaucoma occurred in 5 eyes among the total 56 eyes (9%). There was no statistically different result in the incidence of neovascular glaucoma according to preoperative panretinal photocoagulation, intraoperative cataract extraction, postoperative retinal detachment, intraocular gas or oil injection, duration of diabetes, control of blood sugar and presence of diabetic nephropathy. CONCLUSIONS: The visual prognosis of diabetic vitrectomy is related with preoperative visual acuity. As neovasular glaucoma is detrimental to visual outcome, it is important to find postoperative neovascularizaton on iris as soon as possible and effective treatment is also important.
Blindness ; Blood Glucose ; Cataract ; Cataract Extraction ; Diabetic Nephropathies ; Diabetic Retinopathy* ; Fibrosis ; Glaucoma ; Glaucoma, Neovascular ; Hemorrhage ; Humans ; Incidence ; Iris ; Light Coagulation ; Macular Edema ; Medical Records ; Optic Atrophy ; Postoperative Complications* ; Prognosis ; Retinal Detachment ; Risk Factors ; Visual Acuity ; Vitrectomy* ; Vitreous Hemorrhage