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.
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.
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.
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.
Objective To investigate the clinical manifestations and gene mutation of a pedigree with retinal lattice degeneration and granular corneal dystrophy (GCD) type 2. Methods Ten members in 3 generations of a pedigree with retinal lattice degeneration and GCD2 were included in the study, including 6 patients (3 males and 3 females) and 4 healthy family members. All members underwent visual acuity, slit lamp microscope, three-mirror lens, fundus color photography, optical coherence tomography, and corneal endothelial cells counting. Genomic DNA was extracted from peripheral venous blood (2 ml) from all the subjects and their spouses, who had no related inherited diseases. The next generation sequencing method was used to detect the mutation sites of transforming growth factor β (TGFBI), and all results underwent Sanger verification. Results Among the 12 eyes of 6 patients, the visual acuity was FC/20 cm-1.0. In the superficial central corneal stroma, snowflake-like deposits were observed in three cases (6 eyes), and a small amount of granular deposits were observed in three cases (6 eyes). Corneal endothelial cell counts were normal. Retinal lattice degeneration were observed in 3 cases, 6 eyes (including 3 cases of rhegmatogenous retinal detachment in 4 eyes); retinal thinning without obvious lattice degeneration in 4 eyes of 2 patients. Nystagmus in 1 patient and fundus examination showed no significant abnormalities. DNA sequencing results showed that the proband and 4 patients had missense mutation of TGFBI gene in exon 4 c.371G＞ A, the mutation site corresponding to the amino acid change encoded by TGFBI gene No. 124 Amino acids, from arginine to histidine (p.R124H). Patients with this mutation have varying degrees of clinical phenotype. Conclusions The mutation of c.701G＞ A (p.R124H) in TGFBI gene is the causative gene of GCD in this pedigree. The patients with this mutation have different clinical phenotypes.
Vitreous hemorrhage in children is caused by trauma or non-traumatic factors. Long-term vitreous hemorrhage not only affects children's vision, but also can lead secondary glaucoma, traumatic retinal detachment and other serious complications. Ocular trauma, some ocular and systemic diseases are the common etiology leading to vitreous hemorrhage in children. A small amount of vitreous hemorrhage can be treated by observation and conservative treatment. However, if the vitreous hemorrhage has no obvious absorption or serious complications appeared, it needs to be treated by surgery. The choice of treatment time and methods need to be further studied.