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 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)
ObjectiveTo observe the outcome of scleral buckle and vitrectomy for familial exudative vitreoretinopathy (FEVR) associated rhegmatogenous retinal detachment (RRD) with different stages. MethodsTwenty eyes in 19 patients were included in this study. All the eyes were staged according to the staging system of FEVR. There are 7 eyes at stage 3A, 4 eyes at stage 4A, 6 eyes at stage 4B, and 3 eyes at stage 5. According to classification of retinal detachment (RD) with proliferative vitreoretinopathy (PVR), PVR B was in 5 eyes, PVR C1 in 2 eyes, PVR C2 in 3 eyes, PVR C3 in 7 eyes, PVR D1 in 3eyes. Retinal holes responsible for the RD could be found in every case. Scleral buckle or vitrectomy were chosen according to FEVR staging, PVR classification, location of retinal breaks, extent of RD.Ten eyes (stage 3A in 7 eyes, stage 4A in 3 eyes;PVR B in 5 eyes, PVR C1 in 2 eyes, PVR C2 in 3 eyes) were undergone scleral buckle, the mean preoperative minimum resolution angle in logarithmic (logMAR) best corrected visual acuity (BCVA) is 0.60±0.32.Ten eyes (stage 4A in 1 eyes,stage 4B in 6 eyes,stage 5 in 3 eyes;PVR C2 in 1 eyes,PVR C3 in 6 eyes,PVR D1 in 3 eyes) were undergone vitrectomy, the mean preoperative logMAR BCVA is 1.81±0.53. The mean follow up was(20.20±7.25) months, range 3 to 30 months. Surgical outcome were estimated by the average number of operation, reattachment of retina and BCVA. ResultsFinal retinal attachment was obtained in 100% of all 20 eyes. The mean postoperative logMAR BCVA of scleral buckle group (0.34±0.32) is improved than preoperative BCVA, the difference wan statistically significant (t=2.932, P=0.017). The mean postoperative logMAR BCVA of vitrectomy group (1.42±0.64) is not changed compare with preoperative BCVA (t=1.812,P=0.103).The mean number of operation of scleral buckle group (1.10±0.32) is less than vitrectomy group's (2.20±0.42),the difference wan statistically significant (t=6.588, P=0.000). ConclusionsAmong the patients whose FEVR staging is less than 4A and PVR classification is less than C3,epiretinal membranes or subretinal membranes appears mild, and scleral buckle can achieve high success rate with less number of operations,and the BCVA is improved in most of the cases. For the patients whose FEVR staging is more than 4B and PVR classification is more than C3, proliferative vitreoretinopathy seems to be serious, retina can be effectively reattached via vitrectomy, however, the number of operations required is multiple, and the BCVA is probably unimproved after operation.
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)
ObjectiveTo observe the clinical features of familial exudative vitreoretinopathy (FEVR). Methods202 FEVR patients (404 eyes) from 84 families were included in this retrospective study, all the clinical diagnosis was made by the same expert in our Department. All patients were examined with slit lamp microscope, indirect ophthalmoscopy, children's retinal imaging system or Heidelberg HR2 fundus cameras for fundus photographs. Fluorescein angiography (FFA) was also performed for all patients, for those≤7 years old it was performed under general anesthesia. Data collected from charts included gender, age at presentation and family history. According to the fundus presentation and FFA results, FEVR was classified into 0-5 stages. Stage 0 (normal) is for the health fellow eye in unilateral FEVR; stage 1: retinal peripheral avascular zone with no fluorescence leakage in FFA; stage 2: retinal peripheral avascular zone, with fluorescence leakage in FFA; stage 3: partial retinal detachment not involving the macular; stage 4: partial retinal detachment involving the macular; stage 5: total retinal detachment. ResultsThere were 119 male patients and 83 females. The average age of diagnosis was 16 months, the average gestational age was 39 weeks and the average birth weight was 3223 g in the proband. At the first clinical visit, there was clear family history of FEVR in 4 patients (1.98%); family history of other eye disease (nystagmus, cataract, small eyes, strabismus and others) in 25 patients (12.38%); not family history of eye disease in 173 patients (85.64%). FEVR family history was confirmed by fundus examination and FFA for the family members. In all 404 eyes, 9 eyes (2.23%) was normal, 162 eyes (40.10%) was stage 1, 97 eyes (24.01%) was stage 2, 72 eyes (17.82%) was stage 3, 20 eyes (4.95%) was stage 4, and 44 eyes (10.89%) was stage 5. In 202 patients, 59 cases (29.21%) was asymmetry bilateral disease with different stage for each eye. In 404 eyes, retinal fold was found in 74 eyes (18.32%). ConclusionsFEVR was common in full-term and/or normal birth weight newborns. More than half of patients are in stage 1 and 2 without any clinical features. 29.21% eyes were asymmetry bilateral diseases.