Objective To investigate the major types and clinical manifestations of mitochondrial DNA (mtDNA)mutations in Chinese patients with Leber′s hereditary optic neuropathy(LHON). Methods A total of 119 patients with bilateral optic neuropathy from 117 pedigrees, including 37 with determinate diagnosis of LHON(group A) and 82 with suspected LHON(group B),were tested for mtDNA mutations by using single-strand conformational polymorphism, mutation-specific primer polymerase chain reaction and sequencing. Pertinent clinical data and history of the patients with the 11778 mutation were collected. Results Nucleotide positions(np)11778 mutation and np 14484 mutation was found in 33 (89.2%) and 3 (8.1%) patients respectively in group A, while np 11778 mutation was obtained in 26（31.7%）in group B. No 3460 mutation was found in group A or B. The clinical manifestations of 59 patients with np 11778 mutation were as follows: acute or chronic visual loss，no ophthalmalgia, the age of onset of 10-25, and either a central or paracentral scotoma in perimetry. The visual recovery rate was 8.6%～11.6%. Conclusion Chinese patients with LHON have a very high incidence of np 11778 mutation and the clinical manifestations of the patients with np 11778 mutation are similar to those of Caucasian patients. (Chin J Ocul Fundus Dis，2004，20：78-80)
ObjectiveTo analyze and discuss the clinical features and management of pediatric retinal detachment (RD) associated with morning glory syndrome (MGS).
MethodsThe clinical data of 49 patients (51 eyes) with RD associated with MGS were retrospectively analyzed, including 27 males (27 eyes) and 22 females (24 eyes). The age at first diagnosis ranged from 1 week after birth and 13 years old (4.2±3.2) years. There were 33 eyes of exudative RD, 3 eyes of rhegmatogenous RD and 15 eyes of RD with undetermined cause. Twenty eyes of 20 patients had other congenital ocular abnormalities, including persistent hyperplastic primary vitreous, microphthalmia, choroidal coloboma, iris coloboma. Besides retinal detachment, other complications were found, including cataract, secondary glaucoma,corneal leukoma or edema, strabismus and nystagmus. Twenty-two cases (22 eyes) received treatment. Five cases of mild exudative retinal detachment took oral methazolamide tablets. Three eyes with mild and restricted retinal detachments got retinal laser photocoagulation around the optic disc. Fourteen cases of 14 eyes underwent surgery including vitrectomy, lensectomy, and phacoemulsification. Follow-up after treatment were three months or more, with an average of (20.3±11.8) months. The visual acuity, retinal reattachment and intraocular pressure and other complications after treatment were followed up.
ResultsFive patients of exudative retinal detachment were remained stable by taking methazolamide tablets. Two of the 3 eyes remained stable after laser therapy; however, the remaining one eye was not controlled after relaser. Cataract and glaucoma were resolved by lensectomy in 7 eyes and phaco-emulsification surgery in 1 eye. Retina was re-attached in 6 eyes after vitrectomy. Among those treated, 10 eyes had records of visual acuity. Visual acuity was improved in 1 eye after laser therapy and remained stable in 9 eyes. There were no drugs and surgery-related complications.
ConclusionsRetinal detachment was the main complication of MGS. The high incidence and poor prognosis call for the need of close follow-up and timely treatment, including medicine, laser and surgery.
Objective To observe the ocular manifestations and therapeutic effect of multiple sclerosis (MS) and neuromyelitis optica (NMO) with ocular symptoms.Methods The clinical data of 107 patients who was diagnosed with MS and NMO with ocular symptoms in our hospital were retrospectively analyzed, including 81 MS patients and 26 NMO patients.The counting of erythocytes and leukocyte，protein content and oligoclonal bands were detected by MRI and cerebrospinal fluid (CSF) in order to ensure the clinical diagnosis with MS and NMO. All the patients had undergone regular ophthalmologic examination of visual acuity，slit lamp microscope and fundus examination.In addition，visual field and visual evoked potential (VEP) examination were performed to analyze the clinical characteristics of ocular manifestations.The patients were received therapy with large dose methylprednisolone or activating blood and dissolving stasis and trophic nerve by chinese medicine. The effects of three methods on ocular manifestations were analyzed. All the patients were followed up for one month to five years. Results Among 81 MS patients，retrobulbar neuritis occurred in 24 patients (29.6%), the other common symptoms included paralytic strabismus and diplopia（30.3%）. Among 26 NMO patients，acute papillitis occurred in 12（46.2%），while retrobulbar neuritis occurred in 14 (53.8%). The most common symptom of both MS and NMO was impaired vision and high abnormal rate. The results of MRI showed that demyelinating lesions beside ventricle was the most performance in MS patients，while abnormalities in spinal cord were found in NMO patients.The results of CSF showed that the positive oligoclonal bands was 75.3% and 19.2% in MS and NMO patients respectively. The potential time delay and (or) amplitude declination were observed by VEP. Large dose methylprednisolone can improve vision and diplopia in a short period.Conclusion The abnormal ocular manifestations of MS and NMO patients are common and complicated. Ocular symptoms has important reference value in the early diagnosis of MS and NMO.
Objective
To observe the characteristics of indocyanine green angiography and fundus fluorescein angiography (ICGA amp; FFA) in anterior ischemic optic neuropathy ( AION ) , and to investigate the etiology of AION and the value of ICGA and FFA in the diagnosis and study of AION.
Methods
Simultaneous ICGA and FFA were performed on 32 eyes of 31 AION patients and 38 eyes of 38 non-AION patients.
Results
The eyes that all or a part of the optic disclies in the watershed zon es of the choroidal blood supply were significantly more in the AION group tha n those in the non-AION group (Plt; 0.005 ) . All the watershed zones through the optic disc were vertical in shape. The fluorescence filling of the inferior and superior choroidal blood vessels near the optic disc were all slower than that of the temporal and nasal choroidal blood vessels. The types of watershed zones in the AION group were highly correspondent to the ischemic areas of the optic disc . In early ICGA , no fluorescence appeared at the optic disc, and in later stage, the ischemic area revealed no fluorescence, and the other area showed mostly asymmetric fluorescence.
Conclusion
The onset of AION is correlative to the choroidal blood supply around the optic disc. ICGA is more valuable in the diagnosis and study of AION than FFA .
(Chin J Ocul Fundus Dis, 2001,17:111-114)
Objective
To evaluate the treatment of surgery and high-dose corticosteroid relevant factors to prognosis in traumatic optic neuropathy.
Methods
Forty patients(40 eyes) with traumatic optic neuropathy were enrolled.Optic nerve decompression using transcranial approaches,sinus endoscopy and orbital-ethmoidal sinus rout were performed in 14 patients.Eleven patients were treated with high-dose corticosteroids (5 cases with 1 mg/kg dexamethasone,6 cases with 30 mg/kg methylprednisolone) and 15 patients received nonspecific management chose by themselves.The outcomes of visual acuity in short term and final stage were compared between surgery,high-dose corticosteroid and nonspecific treatment.Multiple variable analysis was done to determine the factors affecting the outcome of visual acuity.
Results
No light perception were found in 19 cases (19 out of 44 cases,47.5%),whereas visual acuity was light perception to 0.02 in 12 cases (30.0%) and 0.05 or better in 9 cases (22.5%).The odds ratio of high-dose corticosteroid to nonspecific therapy was 2.96 (P=0.0125).The final visual acuity in patients treated with high-dose corticosteroid were better than other two groups (P=0.005,P=0.023,respectively).The short term (within 3 days) effective rate was higher in corticosteroid therapy group than operated group (P=0.024).No light perception following optic nerve trauma appeared to be more danger as 2.14 folds (P=0.0349) than those with light perception or better in term of final visual acuity outcome.
Conclusions
High-dose corticosteroid may be benefit to traumatic optic neuropathy.The treatment in traumatic optic neuropathy using optic nerve decompression needs to be determined.No light perception at initial is an important risk factor in the outcome.
(Chin J Ocul Fundus Dis,2000,16:75-77)
Objective
To analyze the new primary mutation in Chinese people with Leberprime;s hereditary optic neuropathy (LHON).
Methods
Genomic DNA was collected from 260 suspected LHON patients and 100 normal healthy persons. The mitochondria DNA mutation at nucleotide position (NP) 15257 and the hot spot (14452-14601 bp) of ND6 gene which include the mutations at NP (14482, 14498, 14568, 14596, 14495, and 14459) were screened by using polymerase chain reaction (PCR), heteroduplex-single strand conformation polymorphism (HA-SSCP) and restriction fragment length polymorphism (RFLP) analysis and sequencing. Primary mutation spectrum of Chinese race was analyzed.
Results
Eight kinds of polymorphism of mitochondria DNA were found in 260 suspected LHON patients and 100 normal healthy persons, including NP 14488C, 14518G, and 14617G which hadnrsquo;t been reported (http://www.mitomap.org/). No mutation at NP 15257, 14482, 14498, 14568, 14596, 14495, and 14459 was found.
Conclusion
The NP 15257A may not be the primary mutation in Chinese. Because of the race difference, 14452-14601 bp in ND6 gene may not be the hot spot in Chinese patients with LHON, and other hot spots may exist.
(Chin J Ocul Fundus Dis, 2006, 22: 82-85)
Infiltrative optic neuropathy (ION) is characterized by the infiltration of tumor cells or inflammatory cells in the optic nerve and its sheath. ION is rare in clinic practice, and ION caused by direct infiltration or metastasis of malignant tumors is easily misdiagnosed as optic perineuritis or optic neuritis, which means delayed proper treatment and makes patients risking possible side effects of steroid therapy. Currently, ophthalmologists are lack of sufficient knowledge about ION, which contributes to the high rate of misdiagnosis and missed diagnosis of ION in clinical practice. The diagnosis and treatment of ION have not yet formed systematic standardized guidelines. Therefore, Neuro-ophthalmology Group of Ophthalmology Branch of Chinese Medical Association organized experts to propose consenus of opinions on definition, diagnosis and treatment of ION, which helps to guide clinical diagnosis and treatment of ION, as well as basic researches about ION.
The diameters of the optic nerves in 54 patients with high intracranial pressure(ICP)were checked and measured with B type ultrasonic tomography and the relationship between thewidth of optic nerve and the optic papiliedema was studied. The results showed that the average diameter (6. 324-0.53)mm of the optic nerves in patients with high ICP was wider than that(3.61 ~:0.29 )mm in health subjects (P(0.01). The rate of increasing width of optic nerve (87.00%)was higher than that (67.00~)of papilledema (P(0.05). In addition,in 19 patients with ICP between 1.97 and 2.50 kPa, the rate of increasing width of optic nerve (79. 00~)was higher than that (42.00%)of papilledema (P (0. 05). These results indicated that measuring the diameter of optic nerve might be more practical than observing tile presence of papilledema in diagnosing high ICP,especially in early stage.
（Chin J Ocul Fundus Dis,1996,12: 86-87）
Objective To evaluate the clinical efficacy of oral calcium dobesilate(CaD) on diabetic optic neuropathy (DON).Methods The clinical data of 235 eyes of 235 patients with DON diagnosed by examination of ocular fundus were retrospectively analyzed.The patients were divided into 3 groups according to the subtypes of DON: anterior ischemic optic neuropathy(AION)group(71 eyes of 71 patients), papilloedema group (71 eyes of 71 patients),and neovascularization of disc (NVD) group (93 eyes of 93 patients).The patients in each groups were randomly subdivided into CaD treating group and control group, in which the patients underwent oral administraion of CaD at a dose of 500 mg twice per day or Vit.E at a dose of 10 mg twice per day,respectively.The course of therapy was 6 months and consecutive 2 courses were performed with the 3-4 days interval between the courses; the courses lasted for 6 months.Several parameters (VFD/V),EA/d,NA/d,LA/d) were semiquantitative analyzed 2,4,6,8 months after initial treatment. Repeated ANOVA measures and t test were used as statistical methods.Results In CaD group,VFD/V (0.25plusmn;0.10),EA/d (0.94plusmn;0.53), and LA/d(1.83plusmn;1.12) 2 months after initial treatment was obviously better than the results before the treatment (0.49plusmn;0.13,1.57plusmn;0.71,3.42plusmn;1.88)(P＜0.001), respectively.VFD/V,EA/d and LA/d in CaD group 2,4,6,and 8 months after initial treatment significantly differed from which in the control group (P＜0.01). There was significant difference of VED/V,EA/d,and LA/d between the CaD and control group during the follow-up period (P＜0.01).At each time point in the followup period, there was no significant difference of NA/d among groups and between the treating and control group (P＞0.05).Conclusion Oral administration of CaD can rapidly and remarkably decrease the extent of visual field defect,relieve optic disc edema and lessen the leakage of NVD.
Objective
To study prospectively the morphological relations among hemorrhage of optic disc, defect of retinal nerve fiber layer, and peripapillary atrophy in normal-tension glaucoma (NTG).
Methods
Qualitative and quantitative methods were applied to evaluate the relations among hemorrhage of optic disc, defect of retinal nerve fiber layer, and peripapillary atrophy by using stereo ocular fundus photography and computer analyzer systems.
Results
In 37 patients (42 eyes) in NTG hemorrhage group, 50 hemorrhagic spots at optic disc was found, including coloboma of retinal nerve fiber layer in 35 eyes (83.3%)(35/42). In 35 patients (40 eyes) in non-hemorrahge group, partial coloboma of retinal nerve fiber layer was found in 21 eyes (52.5%)(21/40). The difference of incidence of coloboma of retinal nerve fiber layer between the two groups was not significant (chi;2=1.403, P=0.236). The incidence of atrophic arc in hemorrhage group differed much from which in non-hemorrhage group (chi;2=7.008, P=0.008). The area of atrophic arc at beta;section in hemorrhage group ［(2.05plusmn;0.88)mm2］ was significantly different from which in non-hemorrhage group［(1.42plusmn;0.53)mm2］(t=-2.618, P=0.012). In the follow-up period, the difference of incidence of disc-rim loss between hemorrhage and non-hemorrhage group was significant, (chi;2=5.802, P=0.016); while the difference of the incidence of visual field defect between the two groups was not.
Conclusion
In eyes with NTG, hemorrhage of optic disc, coloboma of retinal nerve fiber layer and atrophic arc are closely related. More disc-rim loss and changes of atrophic-arc area in hemorrhage group in the follow-up period suggests that hemorrhage of optic disc is the risk factor of development of NTG.
(Chin J Ocul Fundus Dis, 2006, 22: 232-235)
