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 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.
ObjectiveTo observe the application value and therapeutic efficacy of wide-field digital pediatric retinal imaging system (RetcamⅢ) fundus fluorescein angiograms (FFA) assisted photocoagulation on familial exudative vitreoretinopathy (FEVR). MethodsThe study included 46 eyes of 34 patients with staging 2 FEVR. All patients received color fundus photography and FFA under general anesthesia. The blood vessel reliability of color fundus photography and FFA was comparatively determined. Binocular indirect ophthalmoscope laser photocoagulation was applied to peripheral retina with abnormal leakage as indicated by FFA, the wavelength was 532nm, the duration was 0.25 s and the energy was 200-280 mW. After laser photocoagulation, fundus imaging and FFA was repeated. Further laser photocoagulation was immediately added to areas with vessel leakage but missing the photocoagulation. After treatment, the mean follow-up duration was 14.4 months. The follow up focused on neovascularization, exudative lesions, vitreous traction and merging of photocoagulation spots within 3 months, and on fibrosis membrane resulting in macular traction, tractional retinal detachment, vitreous hemorrhage or Coats disease-like retinal exudates after 3 months. ResultsIt was hard to identify the blood vessels based on the color fundus images and some avascular zone maybe missed. Neovascularization can't be determined by shape of the blood vessels. On the other hand, those new blood vessels can be easily recognized by FFA as leakage sites at the boundary of avascular zone. The surgeon could quickly and accurately locate the FEVR area guided by the color fundus images and FFA from same angle under binocular indirect ophthalmoscope. During the treatment, there was no retinal FEVR area missed laser photocoagulation for all patients. There was no neovascularization, exudative lesions, vitreous traction within 3 months, and no fibrosis membrane, tractional retinal detachment, vitreous hemorrhage or Coats disease-like retinal exudates after 3 months. There were no ocular and systemic complications during and after the FFA and laser photocoagulation. ConclusionWide-field RetcamⅢFFA can help retinal specialists to identify abnormal neovascularization, locate the lesion area, and thus increase the success rate of laser photocoagulation, reduce the ocular and systemic complications for FEVR.
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)