Objective To observe the molecular genetic characteristics of seven Chinese families with Leberprime;s hereditary optic neuropathy (LHON). Methods Ophthalmologic examinations were performed on seven probands, maternal members from seven Chinese families and 134 healthy controls. There were two LHON patients in seven Chinese families except probands. The entire mitochondrial genome was amplified using 24 pairs of oligonucleotide primers with overlapping fragments.The mutational site was analyzed through comparison of the Results and Cambridge reference sequence. The penetrance of mutation site was calculated and the haplotype was analyzed. Results Molecular analysis of mitochondrial DNA (mtDNA) in these pedigrees revealed the absence of three common LHON associated with ND4 G11778A, ND1 G3460A and ND6 T14484C mutations. The ND1 T3394C mutation in probands and other matrilineal relatives was present in four out of 134 Chinese healthy controls. Strikingly, these families exhibited very low penetrance of visual impairment. The penetrance was 12.50%, 22.22%, 16.76%, 6.25%, 9.09%, 11.11% and 28.57%. The Results of phylogenetic tree analysis of submitochondrial haplotype showed that these mtDNA polymorphism sites belong to the Asian haplogroups M9, M9, M, D4, M, M9 and M9. Conclusions T3394C mutation exists in seven Chinese LHON pedigrees, and the penetrance was ranged from 6.25% to 28.57%. The patients have different clinical manifestations.
Objective To find the new mutations of Leber's hereditary optic neuropathy (LHON). Methods Two LHON families were enrolled in this study. The probands and all maternal members in this two families were underwent ophthalmologic examinations. The ages of probands were seven and 14 years old respectively. A total of 358 healthy adults were enrolled in this study as control group. The genomic DNA from whole blood of participants were extracted. The entire mitochondrial genome of probands were PCR amplified and sequenced in 24 overlapping fragments using primers as designed. At the same time, the mtDNA of maternal relatives and 358 controls were also detected. Fourteen primate species were selected from GenBank to analyzed the phylogenetics of mitochondrial sequence. Results There was no ND4 G11778A, ND1 G3460A, ND6 T14484C mutational site in all maternal members. Molecular analysis of mtDNA in this two families identified the homoplasmic tRNAGluA14683G mutation and distinct set of variants belonging to the Asian haplogroup F1a1 and G2. The site was at theTpsi;C stem oftRNAGlu and extremely conserved among 14 primate species. It was anticipated that the A14683G increased the highly conserved C-G basepairing. Furthermore, the A14683G was absence in control group. Conclusion The tRNAGluA14683G mutation is likely a new mutation associated with LHON.
Objective To observe the clinical classification and manifestation of diabetic optic neuropathy (DON) in patients with non-proliferative diabetic retinopathy (NPDR).Methods Two hundreds and twenty four patients (440 eyes) with NPDR diagnosed by fundus fluorescein angiography (FFA) were included in this study. All patients were examined including visual acuity, intraocular pressure, slit-lamp microscopy, color fundus photography and visual field.The morphology of optic disc and peripapillary retinal nerve fiber layer (RNFL) thickness were observed and measured by optical coherence tomography (OCT). The levels of HbA1C and lipid were detected. According to the examination results, the patients were divided into DON group and control group. DON groups were further subdivided into diabetic papillopathy (DP), anterior ischemic optic neuropathy (AION) and optic atrophy subgroups. The incidence of DP, AION and optic atrophy were observed. And the differences of RNFL thickness and systemic related indexes among groups were statistically analyzed. Results Among the 440 eyes, DON was found in 19 eyes (4.3%), without DON was found in 421 eyes (95.7%). There were two eyes (10.5%) with DP, 12 eyes (63.2%) with AION and five eyes (26.3%) with optic atrophy in the DON group. Both of the DP eyes were without obvious DR. There was no statistical significance between the incidence of AION in without obvious DR, mild, in moderate and severe NPDR stage (chi;2= 0.019,P＞0.05). Compared with control group, the horizontal disc diameter, vertical disc diameter and C/D ratio were smaller in eyes with AION (t=-2.425,-3.432,-3.871;P＜0.05); the duration of diabetes was significantly prolonged (t=2.320,P＜0.05).Conclusions There are three kinds of DON in patients with NPDR, which include DP, AION and optic atrophy. Optic disk and C/D ratio are small, and the duration of diabetes course is long in AION patients.
Objectives To observe the clinical characteristics of Leber congenital amaurosis (LCA) and analyze the features to differentiate LCA from other similar disorders.Methods Prospective study of 15 LCA patients which include 10 males and 5 females, aged from 2 to 31 years with the mean age 13.6 years. Medical history, family history, perinatal conditions, as well as complete ocular evaluations were well documented. Among the subjects, 12 patients underwent optometry check, 10 patients underwent ERG and 8 patients had OCT testing. Results All of the patients had nystagmus and sluggish pupillary reflex. The visual acuity distributed from light perception to 0.1. Fivepatients (33.3%) were presented with photophobia, while 7 patients (46.7%) had nyctalopia. Among 12 cases underwent refraction examination, 6 patients (50%) had spherical equivalent of ge;+5D；1 patient（8.3%）had spherical equivalent of ge;+5D; 2 patients (16.7%) had bilateral mild to moderate hyperopia；1 patient (8.3%) had one emmertropic eye and one mild myopic eye; 2 patients (16.7%) had moderate to high myopia. Eight patients (53.3%) had enophthalmus,4 patients (26.7%) had oculodigital sign. All of the 10 patients underwent ERG showed extinguished waveform. Under OCT assesement, 7 patients had decreased fovea thickness; 1 patient had increased fovea thickness, complicated by epiretinal membrane; mild abnormality of microstructure of the retina with diminished and disrupted IS/OS hyperreflectivity were found in 2 cases；while more pronounced disarrangement of the retinal layers were found in 6 cases，inner layers were better reserved in all patients.Conclusions Severe visual impairment or blindness, nystagmus, pupillary reflex, extinguished ERG and hyperopia are main clinical characteristics of LCA.
Objective To investigate the characteristics and risk factors of optic nerve atrophy in eyes with complicated retinal detachment after silicone oil tamponade during the procedure of vitreoretinal operation. Methods The clinical data of 97 patients with complicated retinal detachment who had optic nerve atrophy after silicone oil tamponade during the procedure of vitreoretinal operation were an alyzed retrospectively. Logistic regression analysis by SPSS statistical software was used to analyze the factors like age, disease history, primary diseases, preoperative ocular condition, complications in and after the operation, the time taking out the silicone oil, and emulsification of the silicone oil, and Ple;0.05 was considered to be the symbol of significant difference. Results All of the affected eyes had optic discs with clear border, including paler optic disc in 65 eyes, pale one in 21 eyes, and paler optic disc with enlargement of the cup/disc (ge; 0.6) in 11 eyes. The result of logistic regression analysis showed that the intraocular pressure (P=0.022) and the visual acuity (P=0.001) during the silicone oil removal were in the equation. Conclusion The risk factor of optic nerve atrophy is the chronic increase of intraocular pressure after silicone oil tamponade. (Chin J Ocul Fundus Dis, 2006, 22: 305-307)