Purpose To investigate the relationship between mitochondrial DNA 11778 mutation and clinical characteristics of patients with Laber is hereditary optic neuropathy(LHON). Methods PCR RFLPs (MaeⅢ) and mutation specific primer PCR(MSP-PCR) were used simultaneously to detect mitochondrial DNA 11778 mutation. Results Among 10 subjects who habored 11778 mutation,one was a carrier and nine were patients with LHON.Of the nine patients,six were males and three were females.The age of onset ranged from 12 to 25 years old and the onset interval of the two eyed varied between 0 to 6 months. The visual acuity was CF/10cm-0.1 except one who lost her vision after delivery but recovered gradually.The results of visual field,VEP and color vision were abnormal but ERG and systemic status were all normal. Conclusion Molecular biological detection of the ten subjects showed that they all habored mtDNA 11778 mutation.The existence of carrier and visual recovery imlied that mtDNA mutation was a primary cause of LHON,but other factors such as endocrine disorder might influence the pathogenesis of LHON. (Chin J Ocul Fundus Dis,1998,14:156-158)
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)
Optic nerve diseases seriously affect visual function, and early accurate diagnosis and effective follow-up are very important for treatment and prognosis. Optical coherence tomography (OCT) and OCT angiography (OCTA) are non-invasive and high-resolution imaging techniques, which play increasingly important roles in the diagnosis and treatment of optic nerve diseases. OCT can visually display the structure of retinal nerve fiber layer and macular area, accurately measure the thickness of nerve fiber layer and structural parameters of macular area. OCTA can clearly display the changes of microblood flow around optic disc and retinal blood vessels. The combined use of these two technologies will not only help diagnose and monitor optic nerve diseases, but also deepen our understanding of the pathogenesis of optic nerve diseases. In view of the fact that the application of OCT and OCTA in neuro-ophthalmic diseases involving the optic nerve is still in the development stage in the domestic medical community, it is urgent to formulate a guiding document to regulate and promote the application of these two technologies. To this end, based on a systematic literature review and combined with the current clinical practice of OCT and OCTA in China, we formulated the Expert consensus on the clinical application of optical coherence tomography and angiography in optic nerve diseases. This consensus comprehensively expounds the technical principles and main measurement indicators of OCT and OCTA, the specific application, examination specifications and limitations of OCT and OCTA in clinical diagnosis and follow-up of neuroophthalmic diseases involving optic nerve, aiming to improve the application level of OCT and OCTA by doctors, especially neuroophthalmologists, and better play the role of this advanced imaging technology in neuroophthalmology.
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 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)
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）
Optogenetics, a technique for the precise modulation of cellular activity, has unveiled its distinctive application value within ophthalmology. Optogenetics achieves the light-controlled activation or inhibition of retinal cell functions through precise genetic introduction of light-sensitive proteins, paving new avenues for the treatment of irreversible vision impairment. Optogenetics has emerged as an effective treatment for retinal degenerative diseases and optic nerve damage, it has also made substantial contributions to the realm of visual function research. Furthermore, the integration of optogenetics with light-controlled stem cell technology and light-controlled gene editing technology has unveiled its immense potential in clinical translation. With the advancement of technology and the deepening of clinical practice, optogenetics holds broad prospects within ophthalmology and is poised to offer innovative therapeutic strategies for patients with visual impairments.
Ras homolog family (Rho)/ Rho-associated coiled-coil kinase (ROCK) signaling pathway widely exists in human and mammal cells, which is closely related to inhibition of repair after optic nerve damage. The expression level of Rho/ROCK signaling pathway-related proteins is up-regulated in glaucoma, and related with the death of retinal ganglionic cell (RGC) and the axon activity. ROCK inhibitors can protect the surviving RGC and promote axon extension with a dose-dependent manner. ROCK inhibitors also can inhibit glial scar formation, lower intraocular pressure and inhibit inflammatory response to some degrees. Rho/ROCK signaling pathway correlates with the optic nerve disease progression, and ROCK inhibitors hope to become a new therapeutic drug.
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.