ObjectiveTo observe the characteristics of images of optic coherence tomography (OCT) for the macular region of congenital retinoschisis and investigate its significance.MethodsThe data of OCT of 11 patients (20 eyes) with congenital macular retinoschisis diagnosed by direct or preplacedmirror ophthalmoscopy, fundus fluorescein angiography (FFA), and electroretinography (ERG) were retrospectively analyzed.ResultsThe images of OCT showed split in the mid portion of sensory retina at the macula in all eyes. The retina of fovea centralis was divided by the split into two slightly thickening layers. In addition, in a few number of cases, the parafoveal sensory retina which became much thickening with 2 splits, was divided into 3 layers.ConclusionThe characteristic of images of OCT in macular congenital retinoschisis is the split cavity at the middle layer of the retina, and OCT has a high sensitivity in the diagnosis of congenital retinoschisis. (Chin J Ocul Fundus Dis, 2005,21:93-96)
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)
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)
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)