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.
ObjectiveTo investigate the clinical characteristics and surgical management of the familial exudative vitreoretinopathy (FEVR)-associated rhegmatogenous retinal detachment (RRD). MethodsRetrospective noncomparative case series. Thirty-three eye of 32 patients were diagnosed FEVR-associated RRD by Fluorescein fundus angiography. There were 26 males and 6 females. The male to female ratio is 4.3:1 with an average age of 19.35±8.83 years. The detection of best corrected visual acuity (BCVA), refraction status, fundus photograph and fluorescein fundus angiography(FFA)were underwent in all patients. FEVR was confirmedby FFA and positive family history. The BCVA, refraction status, morphology of retinal detachment, location, size and shape of retinal hole, presence and grade of proliferative vitreoretinopathy (PVR), and subretinal proliferation were recorded. ResultsAs for the refractive status, the scope of refraction was +2.0 D to-13.0 D andthe BCVA were range from light perception to 0.7. Atrophy holes which located at the temporal half were responsible for retinal detachment in all cases. Besides, horseshoe tears were noted in 6 eyes (18.18%), while macular tears were noted in 2 eyes of RRD (6.06%). The PVR greater than stage C2 was noticed in 10 eyes (30.30%), while subretinal proliferation was presented in 23 eyes (69.70%). ConclusionsMale predominance, juvenile onset and associated with moderate to high myopia are the main characteristics in FEVR-associated RRD. Atrophy holes at the temporal half and the subretinal proliferations were most commonly in FEVR-associated RRD. Detailed fuduns and FFA examination of the fellow eye should be undergone to avoid misdiagnosis.
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.
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 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.