Objective To detect the clinical characters and the classification of the congenital retinal vascular anomalies. Methods Nine cases (12 eyes) of congenital retinal vascular anomalies were examined by ocular examination and fundus fluorescein angiography (FFA), in which 3 cases (4 eyes) were examined by indocyanine green angiography (ICGA) simultaneously. Results The congenital retinal vascular anomalies were located at the posterior pole in 8 cases (10 eyes), and extended to peripheral retina in 1 case (2 eyes). Congenital retinal vascular anomalies were classified as follows: congenital retinal macrovessel (1 case, 1 eye); congenital retinal arteriolar tortuosity (2 cases, 3 eyes); inherited retinal venous beading (1 case, 2 eyes); and congenital prepapillary vascular loops (5 cases, 6 eyes). Four cases (5 eyes) were associated with spontaneous hemor rhage induced by physical exertion (Valsalva maneuver). Conclusion Most of the congenital retinal anomalies are located at the posterior pole, involving arteries and veins, and can be associated with spontaneous hemorrhage induced by Valsalva maneuver. (Chin J Ocul Fundus Dis，2003，19：269-332)
Objective To observe the characteristics of fundus fluorescein angiography(FFA)and optical coherence tomography(OCT)in juvenile retinoschisis． Methods The photochromes of the ocular fudus of 7 cases(14 eyes)who were diagnosed as juvenile retinoschisis were taken，among whom，5(10 eyes)were examined bv FFA，and 6(12 eyes)bv OCT． Results In 8 eyes with cystiform stellate maculopathy under ophtalmoscope，the result of FFA showed granular fluorescence in different density and shape without exact connection of the configuration between these granules and the cystlike maculopathy．In 2 eyes with pigment disorder in the macula under ophthalmoscope，blocky fluorescence was found in FFA．In 3 eyes with peripheral schisis，FFA discovered distorted and dilated retinal capillaries with different extent,and flecks of non-perfusion area．OCT images revealed thickening of the macular neuroepithelium with laminal separation,and cystic low-reflect areas in the inner layer． Conclusions In juvenile retinoschisis, pigment proliferation and degeneration in the macular area could be found．Granular fluorescence and cystic low—reflect areas could be seen in FFA and OCT，respectively. (Chin J Ocul Fundus Dis，2004，20：5-7)
ObjectiveTo observe the surgical effects of scleral buckling and vitrectomy for familial exudative vitreoretinopathy (FEVR). Methods34 eyes of 27 patients with FEVR who underwent either scleral buckling or vitrectomy were enrolled in this study. There are stage 2B in 2 eyes (5.88%), stage 3B in 7 eyes (20.59%), stage 4A in 1 eye (2.94%), stage 4B in 16 eyes (47.06%), stage 5 in 8 eyes (23.53%). 5 eyes associated with rhegmatogenous retinal detachment. The surgical approaches had been chosen according to the disease stage, severity, extent and morphology of the proliferative membrane. 13 eyes (stage 2B in 2 eyes, 3B in 4 eyes, and 4 in 7 eyes) underwent scleral buckling and 21 eyes (stage 3B in 3 eyes, 4 in 10eyes, and 5 in 8 eyes) underwent vitreoretinal surgery. The main outcome measurement was the anatomic status of the macula, which was recorded as attached, partially attached or remain detached. The mean follow up was (18.00±14.61) months (range 4 to 60 months). ResultsAmong 13 eyes received scleral buckling, the macula was attached in 2 eyes with stage 2B (15.38%), partially attached in 11 eyes (84.62%) including 4 eyes with stage 3B, 1 eye with stage 4A and 6 eyes with stage 4B. Among 21 eyes received vitrectomy, the macula was attached in 8 eyes (38.10%) including 2 eyes with stage 3B, 4 eyes with stage 4 and 2 eyes with stage 5; the macula was partially attached in 9 eyes (42.86%) inducing 4 eyes with stage 4 and 5 eyes with stage 5; the macula remained detached in 4 eyes (19.05%) including 1 eye with stage 3B, 2 eyes with stage 4 and 1 eye with stage 5. ConclusionIf the surgical approaches were chosen based on the stage of FEVR and the severity, extent and morphology of the proliferative membrane, the surgery is effective and beneficial to FEVR patients.
Objective To analyze the pathogenesy and mutation of X-linked juvenile retinoschisis (XLRS) 1 gene in XLRS families, and to provide the theory basis in directing gene diagnosis. Methods The mutation of XLRS1 gene code in two XLRS families were detected and screened by polymerase chain reaction (PCR) and DNA direct sequence determination. Results Pro193Ser mutation was detected in family 1. Conclusion Pro193Ser mutation could be found in XLRS families, which can be used for genetic consultation and prenatal gene diagnosis. (Chin J Ocul Fundus Dis，2004，20：149-151)