Total vitrectomy and removal of the posterior hyaloid membrane were done in 7 patients who were diagnosed as macular hole with specific causative factors. The causative factor of 2 patients is high myopia and of remainers is trauma. Of the 7 patients treated by removal of the posterior hyaloid membrane during total vitrectomy, 3 patients showed anatomical and functional success, 2 patients only the anatomical success, and 2 patients failure. The postoperative complications included phthisis bulbi, proliferative vitreoreinopathy, optic atrophy, and macular degeneration, and iatrogenic rhegmatogenous retinal detachment. Two patients of the 3 success cases complained of mild diplopia after operation.
Diplopia ; Humans ; Macular Degeneration ; Membranes* ; Myopia ; Optic Atrophy ; Postoperative Complications ; Retinal Detachment ; Retinal Perforations* ; Vitrectomy*

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

We report a 36-year-old male with the bilateral visual field defect following LASIK was observed. Preoperatively, patient had high myopia(right. -7.25 0.75x18, left. -7.5-0.5x12), normal intraocular pressure(IOP)(right/left: 16/14 mmHg), normal visual field(Humphrey 30-2 visual field)and revealed the tilted discs with symetric optic nerve head cupping(cup-to-disc ratio, 0.70), parapapillary atrophy. Bilateral LASIK keratorefractive surgery was on the same day and intraoperative complication was not noted. After the first operative visit day, examination revealed uncorreted visual acuity right 0.8 and left 0.6 but scotoma was reported. Three months later, Humphrey 30-2 visual field revealed a near-superior altitudinal defect in the right eye and nasal side visual field defect in the left eye. Best corrected visual acuity was 1.0 in the right eye, 0.8 in the left eye. Repeated visual fields over a 11-month period postoperatively showed stability of the defect, with IOP of 12 mmHg to 15 mmHg in each eye. We considered LASIK uses a microkeratome vaccum ring to make a corneal flap, transient elevation of IOP alters the microcirculation of optic nerve head and may have precipitated visual field defect.
Adult ; Atrophy ; Humans ; Intraoperative Complications ; Keratomileusis, Laser In Situ ; Male ; Microcirculation ; Optic Disk ; Scotoma ; Visual Acuity ; Visual Fields*

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

Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities. We describe here an 18 year old boy with Cockayne syndrome who had, in addition to the typical features of the disorder, fasting hyperinsulinemia and growth hormone deficiency.
Adolescent ; C-Peptide/blood ; Cockayne Syndrome/*complications/pathology ; Growth Disorders/*complications/pathology ; Growth Hormone/*deficiency ; Humans ; Hyperinsulinism/*complications/pathology ; Insulin/blood ; Male ; Optic Atrophy/pathology ; Retinal Degeneration/pathology

The authors experienced a case of choroidal expansion which occurred after trabeculectomy in glaucoma with Sturge-Weber syndrome. She had right facial nevus flammeus and prominent episcleral vessels. Intraocular pressure was measured to be 45mmHg(OD). Gonioscopy showed wide open angle. Fundus examination revealed tortous retinal vessels and glaucomatous optic atrophy. We performed trabeculectomy and mitomycin-C soaking. There were no serious intraoperative complications. Choroidal expansion and detachment occurred at entire peripheral fundus postoperatively. It disappeared when intraocular pressure was maintained high(24-36mmHg), but recurred when intraocular pressure maintaned low(15-20mmHg). Indocyanine green angiography revealed chroidal hemangioma at posterior pole of fundus.
Angiography ; Choroid* ; Glaucoma* ; Gonioscopy ; Hemangioma ; Indocyanine Green ; Intraocular Pressure ; Intraoperative Complications ; Mitomycin ; Optic Atrophy ; Port-Wine Stain ; Retinal Vessels ; Sturge-Weber Syndrome* ; Trabeculectomy

The authors experienced a case of choroidal expansion which occurred after trabeculectomy in glaucoma with Sturge-Weber syndrome. She had right facial nevus flammeus and prominent episcleral vessels. Intraocular pressure was measured to be 45mmHg(OD). Gonioscopy showed wide open angle. Fundus examination revealed tortous retinal vessels and glaucomatous optic atrophy. We performed trabeculectomy and mitomycin-C soaking. There were no serious intraoperative complications. Choroidal expansion and detachment occurred at entire peripheral fundus postoperatively. It disappeared when intraocular pressure was maintained high(24-36mmHg), but recurred when intraocular pressure maintaned low(15-20mmHg). Indocyanine green angiography revealed chroidal hemangioma at posterior pole of fundus.
Angiography ; Choroid* ; Glaucoma* ; Gonioscopy ; Hemangioma ; Indocyanine Green ; Intraocular Pressure ; Intraoperative Complications ; Mitomycin ; Optic Atrophy ; Port-Wine Stain ; Retinal Vessels ; Sturge-Weber Syndrome* ; Trabeculectomy

From Nov. 1990 to Dec. 1994, authors have experienced 12 patients(13 eyes) diagnosed as posterior lens dislocation. The clinical results were evaluated in aspeets of sex and age distribution, preoperative and postoperative visual acuity, operative method, postoperative complication. The average age of patients was 57.8 years old and average follow-up period was 11.5 months. Male were 58%. They have history of ocular trauma in all 13 eyes. Dislocated lens was removed by extraction with lens spoon or loop through corneoscleral incision in 3 eyes and pars planar vitrectomy followed by lens lift with needle and extraction through corneoscleral incision in 7 eyes or with perfluorocarbon liquid and extraction with spoon or loop in 3 eyes. The best corrected visual acuity was improved in 10 eyes and remained the same in 2 patient(3 eyes) who was visited our hospital more than 10 years after dislocation and associated with optic nerve atrophy, macular degeneration, bullous keratopathy. Postoperative complications included glaucoma, choroidal detachment, retinal detachment, persistent vitreous inflammation, vitreous hemorrhage, bullous keratopathy.
Age Distribution ; Atrophy ; Choroid ; Dislocations ; Follow-Up Studies ; Glaucoma ; Humans ; Inflammation ; Lens Subluxation* ; Macular Degeneration ; Male ; Needles ; Optic Nerve ; Postoperative Complications ; Retinal Detachment ; Visual Acuity ; Vitrectomy ; Vitreous Hemorrhage

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*

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