Purpose To clarify the relationship between diabetic retinopathy (DR) and maculopathy (DM) and explore the clinical implication of independent graduation of DM. Methods Fundus fluorescein angiography and routine ophthalmological examination were performed on 582 cases of diabetes.Their ocular fundi and macular impairments were graded. Results In general,the severity of diabetic macular impairment was accompanied by retinal involvement,but discrepancy existed between DM and DR.Degree I DM occurred in 5.4% (16/294) among cases without DR,in stage IV DR,degree Ⅲ DM accounted for the most part ,54.5% (116/213).There were still 5.1% (2/39) cases without DM in stage Ⅴ DR. Conclusion The degree of the macular lesions in DM is often not in parallel with the gradation of general affections in retinal tissue other than in macular region in DR,therefore,independentg radation of diabetic maculopathy has its clinical significance for choosing the optimal period of treating maculopathy and preserving the macular function. (Chin J Ocul Fundus Dis,2000,16:153-154)
Objective To analyze the relationship between genotype and phenotype of vitelline macular dystrophia (VMD2) gene in a family with Best disease, and to provide the theoretical basis for gene diagnosis of Best disease. Methods Mutation in the coding regions and the promotor sequence of VMD2 gene from 10 members in a family with Best disease were screened by polymerase chain reaction (PCR) and direct DNA sequencing, and combined with a conformation sensitive gel electrophoresis (CSGE) approach, VMD2 gene screening was performed on 100 normal control individuals. Results In the 10 members, Trarr;C nucleotide change at the 223 base of exon 3 was detected in 9, including 6 with Best disease who was confirmed by ophthalmoscopy and electrophysiological examination in whom 2 were affirmed as having homozygote of this mutation. Other 3 young family members with VMD2 gene mutation only had abnormal electro-oculogram manifestations. Above mutation was not detected in the normal control individuals. Conclusions The phenotype and genotype of VMD2 in the family with Best disease is highly correlated. Mutation in VMD2 gene is the nosogenesis in this family. Mutation screening of VMD2 gene can be used for genic diagnosis and genetic consultation of Best disease. (Chin J Ocul Fundus Dis, 2006, 22: 86-89)
Objective To analyse the indocyanine green angiographic findings in contralateral eyes of patients with unilateral exudative age-related macular degeneration(AMD). Methods Fundus photograph,fundus fluorescein angiography(FFA) and indocyanine green angiography(ICGA) were performed in a series of 70 patients with unilateral AMD and drusens and pigmentary changes in the macular region in contralateral eyes.The findings of fluoroangiograms were observed and analysed. Results ICGA revealed the characteristics of the contralateral eyes as follows:(1)Drusen could be hypofluorescent,hyperfluorescent or normal fluorescent;(2)14 eyes revealed plaque-like late hyperfluorescent;(3)13 eyes revealed choroidal filling defect;(4)18 eyes revealed pindot-like clusters of late hyperfluorescence. Conclusion ICGA is useful in evaluating the lesions and circulation disturbance of the contralateral eye,and may help to find the risk factors of developing future exudative changes. (Chin J Ocul Fundus Dis, 1999, 15: 216-218)
Objective To explore the correlation between retinal extracellular edema and vitreous contraction in rabbits. Methods Seventeen pigmented rabbit models with retinal vein occlusion (RVO)was set up by laser photocoagulation. Retinal vascularity area was pathologically examined 1 month later.The vitreous gellength under the gravity condition and the percentage of its weight in the rabbits with extraeellular edema was observed. The mechanisms were investigated by Western immunoblotting of type II collagen.Results Extracellular edema was found in 13 experimental eyes 1 month after the formation of RVO (76.5~) with contracted vitreous gel and released watery liquid, and the a component of type II collagen was cross-linked together to form high-molecular-weight components of 1] and 7, which weakened the stability of collagen net structure.Conclusions Vitreous contraction and retinal extracellular edemawere correlated. The main reason may be the cross-links of vitreous collagen that damages the stability of collagen structure. (Chin J Ocul Fundus Dis，2004，20：2-32)
Objective To investigate the disease-causing gene of Stargardt disease. Method Fifteen patients with Stargardt disease were analyzed with 11 primers of the 11 exons of ABCR gene by using PCR-SSCP and DNA direct sequencing techniques. Results Three newly detected disease-causing mutations were found. Among those mutations, one is a frameshift mutation and others are single base transition. Conclusion This research confirmed that ABCR gene is associated with Stargardt disease, and 3 new mutations of ABCR gene were found. (Chin J Ocul Fundus Dis,2000,16:240-243)