ObjectiveTo investigate the relationship between genotype and phenotype in children with CRB1 mutated Leber congenital amaurosis (LCA) and early onset retinal dystrophy (EOSRD).MethodsA retrospective clinical study. From January 2013 to December 2019, 10 children with CRB1 mutated LCA/EOSRD were enrolled in the study. The patients were identified as CRB1 mutation by the second generation targeted capture sequencing, Sanger sequencing and the family segregation analysis. All children underwent electroretinogram (ERG) and fundus examination. At the same time, 6 cases were examined by optical coherence tomography (OCT); 1 case was examined by fluorescein fundus angiography (FFA), 7 cases were examined by wide-angle laser scanning ophthalmoscope (UWF SLO).ResultsThere were 6 cases of LCA and 4 cases of EOSRD in 10 patients with CRB1 gene mutations. The average age of first visit was 3.61 years old. The light and dark wave of ERG was flat in 6 cases, and decreased in 4 cases. A total of 19 pathogenic mutations were detected. There were 1 homozygous mutation and 9 compound heterozygous mutations. There were 4, 2 and 1 cases of “copper-coin” like, “salt and pepper” like and “osteocyte” like pigment changes in retina, 1 case of “crystalline pigment” change and 2 cases of macular pigment scar. In 7 cases of UWF SLO examination, different degrees of para-arteriolar pigment epithelium retention (PPRPE) were found in the middle and peripheral fundus. In 6 cases examined by OCT, the outer layer of retina atrophied and the band of ellipsoid disappeared. Symmetrical cystoid macular edema, splitting cystoid macular degeneration and adhesion of epi-macular membrane to optic disc and macular area were found in 1 case, respectively, the retinal structure was rough and thickened, and the fovea became thinner in 3 cases. In FFA examination, 1 case showed uveitis-like changes with late optic disc fluorescein staining, macular fluorescence accumulation, strong fluorescence diffusing along the blood vessels in each quadrant, peripheral PPRPE of “frost-branch” like strong fluorescence.ConclusionThe relationship between genotype and phenotype of CRB1 mutation is complex, and PPRPE is a common characteristic change.
Persistent fetal vasculature syndrome (PFVS) is a rare congenital vitreous dysplasia, which is classified as anterior, posterior and combined types according to the location of the vascular abnormalities. The clinical manifestations of PFVS are diverse, and early surgical intervention is very important. The main objective of surgical treatment is to remove the anterior and posterior traction between fibrovascular membranes and retina as well as lens, and to reconstruct clear visual axis. Surgical treatments include pupilloplasty, lensectomy with or without intraocular lens implantation and vitrectomy via limbal or scleral approach. For new technologies, the applications of ophthalmic viscosurgical device and femtosecond lasers have desirable results . In addition to focusing on improving the success rate of surgery, it is also necessary to systematically and comprehensively assess the overall preoperative condition and postoperative visual function of the patients. PFVS eyes have limited improvement in postoperative vision, which is related to the extent of lesion involvement and the occurrence of complications. Eyes with macular dysplasia and tractional retinal detachment, as well as elongated ciliary process, have a poor prognosis of vision after surgery. How to improve postoperative vision in the eye affecting the posterior segment of the eye with PFVS from the microscopic anatomical relationship between the fibrous vascular pedicle and the retina is worth further study. On the other hand, reducing surgical trauma and optimizing surgical procedures in order to improve postoperative visual acuity and reduce postoperative complications are also the key research directions of future PFVS treatments.
Retinopathy of prematurity (ROP) is a proliferative vascular retinal disease. Cryotherapy, laser photocoagulation, intravitreal injection of anti-vascular endothelial growth factor, scleral buckling surgery and vitrectomy are the main treatments. Treated with cryotherapy or laser photocoagulation or intravitreal injection of anti-vascular endothelial growth factor, patients with a history of ROP have thicker foveas, and the morphology of the fovea and the development of the retinal vessels in the macular area are affected, resulting in abnormal vision development. However, the specific mechanisms by which different treatments of ROP affecting the development of the macula are not yet clear. It still need further study with large samples to verify and explore, whether changes in the levels of intraocular vascular endothelial growth factor changing the process of normal macular development and how the abnormal development of the macula affects visual function.
ObjectiveTo observe the optical coherence tomography (OCT) features of X-linked juvenile retinoschisis (XLRS) and its relationship and visual acuity. Methods Twenty-three XLRS patients (38 eyes) were enrolled in this study.All patients underwent best corrected visual acuity (BCVA) and frequency-domain optical coherence tomography (SD-OCT) examination. The international standard visual acuity chart was used for BCVA test and the results were then converted into logarithm of the minimum angle of resolution (logMAR) visual acuity. The mean logMAR BCVA of all patients was 0.41±0.28. Topcon 3D-OCT 1000 and Topcon DRI-OCT were applied to detect the retinal layers of retinoschisis. Based on the OCT features, retinoschisis was classified into 3 types, including splitting between outer nuclear layer (ONL) and outer plexiform layer (OPL), inner nuclear layer morphology (INL) splitting, splitting between ganglion cell layer (GCL) and nerve fiber layer (NFL). Based on the OCT features of fovea, there were photoreceptor inner segment (IS)/outer segment (OS) presence group and IS/OS absence group. ResultsThere were 17 eyes (44.7%) with splitting between ONL/OPL, 38 eyes (100%) with INL splitting, 13 eyes (34.2%) with splitting between GCL/NFL. INL splitting can coexist with splitting in other retinal layers. There were 25 eyes (65.8%) with splitting in 2 or more retinal layers. The mean logMAR BCVA were 0.32±0.17 and 0.44±0.22 respectively in the IS/OS absence group and presence group, the difference was statistically significant (t=6.531, P=0.008).The mean fovea thickness (FT) were(517.10±96.92)and(523.08±72.84) μm respectively in the IS/OS absence group and presence group, the difference was not statistically significant (t=2.282, P=0.061). There was no correlation between logMAR BCVA and FT (r=0.200, P=0.929). ConclusionsIn patients with XLRS, the foveomacular schisis involved in multiple retinal layers and most frequently in the INL. The defect of IS/OS is the important reason of the low visual acuity.
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.
Objective To observe the surgical outcome of the modified transconjunctival technique for minimal segmental buckling on rhegmatogenous retinal detachment (RRD). Methods This is a retrospective case series. Seventy-six patients (78 eyes) with uncomplicated RRD who underwent the modified transconjunctival technique for minimal segmental buckling were enrolled in this study. There were 41 male (42 eyes) and 35 female (36 eyes). The average age was (33.9±15.6) years. Best corrected vision acuity (BCVA), fundus examination with three-mirrors lens, ocular B ultrasound, optical coherence tomography (OCT) were performed in all patients. BCVA was examined through Standard logarithmic visual acuity chart and transferred to logMAR vision for statistical analysis. The logMAR BCVA was 0.88±0.88. The technique was successfully performed in all 78 eyes. After transconjunctival location of the retinal break was made, a 5 to 6 mm radial conjunctival incision was performed corresponding to the retinal break without cutting the limbal conjunctiva–Tenon’s capsule. After cryopexy, a minimal explant was fixed with one to two sutures through the conjunctival opening, expanded by a pediatric speculum. BCVA, intraocular pressure, tear film stability, conjunctival recovery and retinal reattachment were collected 1 week, 1 month, 3 months, 6 months after surgery. Results One week after surgery, retinal reattachments were achieved in 77 of 78 (98.7%) eyes and 1 eye (1.3%) received vitrectomy. Compared before surgery, the logMAR BCVA improved to 0.44±0.41, with significant difference (t=3.092, P＜0.01). Conjunctival incision tear occurred in 1 eye. Subretinal hemorrhage occurred in 5 eyes during subretinal fluid drainage procedure. Subretinal hemorrhage occurred in 5 eyes during subretinal fluid drainage procedure. Hemorrhage was absorbed in 2 of the 5 eyes at 3 months after surgery and absorbed in all 5 eyes at 6 months after surgery. Subretinal fluid occurred in 10 eyes at 1 week after surgery and be absorbed completely at 6 months after surgery. Tear film stability improved to preoperative lever at 1 week after surgery. Less change in corneal and conjunctival sensitivity was observed in all eyes. No other surgical complications were observed within the follow-up period, such as scleral perforation, explant extrusion, diplopia or infection. Conclusions The modified transconjunctival technique for minimal segmental buckling minimizes the damage to conjunctiva without reducing the retinal reattachment rate. It can effectively treat uncomplicated RRD with preserving an intact limbal conjunctiva and rapid tear film stability recovery.