“The international classification of retinopathy of prematurity (ROP)(The 3rd edition)”, retains current definitions such as zone, stage, and circumferential extent of disease, however, there are also many updates. Major updates include: (1) increase of the definition of posterior pole Ⅱ; (2) introduction of a new concept "notch"; (3) definition of stage 5's subcategorization; (4) recognition that a continuous spectrum of vascular abnormality exists from normal to plus disease. Updates also include the definition of “aggressive ROP” to replace “aggressive-posterior ROP”. ROP regression and reactivation are described in detail, with additional description of long-term sequelae.
Morning glory syndrome (MGS) is a congenital optic disc anomaly. The characteristic ophthalmoscopic findings consist of a generally enlarged, funnel-shaped and excavated optic disc, surrounded by an elevated annulus of chorioretinal pigment disturbance, with a central glial tuft, multiple narrow branches of retina vessels radiating from the disc. There are peripheral non-perfusion retinal areas in most cases. The pathogenesis of MGS remains unclear. MGS might be associated with many ocular and systemic abnormalities, involving facial, central nervous, cerebrovascular and endocrine systems. Persistent hyperplastic primary vitreous and retinal detachments (RD) are the most common ocular complications of MGS. The mechanism RD in MGS is unclear. Vitrectomy with long-acting gas or silicone tamponade and photocoagulation around the breaks or the enlarged disc might be efficient for rhegmatogenous RD of MGS. Early diagnosis is crucial for recognition and treatment of the ocular and systemic complications, and maintenance of the visual function.
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.
ObjectiveTo evaluate the efficacy and safety of comprehensive treatment for retinoblastoma (RB). MethodsA retrospective clinical study. From January to December in 2019, 157 cases (203 eyes) of RB who were diagnosed by the Department of Ophthalmology of Xinhua Hospital and received comprehensive treatment were included in this study. Of cases, 76 were male, and 81 were female; 111 were unilateral, and 46 were bilateral. The medium of age at diagnosis was 20.1 months. All patients received treatment for the first time. Patients with intraocular tumors were divided into A-E stages, extraocular stage and distant metastasis according to international intraocular RB classification standard. The median follow-up time was 37.4 months. Clinical features, treatment, prognosis and ocular complications of all cases were recorded. ResultsAmong 157 cases (203 eyes), 137 cases (180 eyes) were in intraocular stage; 6, 14, 10, 98, and 52 of eyes were in A-E stages, respectively. Twelve cases (12 eyes) were in extraocular stage; 8 cases (11 eyes) were in distant metastasis stag; 8 cases died due to distant metastasis; 149 cases (94.9%, 149/157) survived; 48 eyes were enucleated, 34 of which underwent initial enucleation, and 14 eyes underwent enucleation after eye-preserving treatment. The overall global salvage rate was 155 eyes (76.4%,155/203), and that after eye-preserving treatment was 91.7% (155/169). Severer eye for bilateral cases was taken into account for statistic; 120 cases (120 eyes) received initial eye-preserving treatment. Among them, 36 and 84 eyes underwent initial intravenous chemotherapy (IVC) and initial intra-arterial chemotherapy (IAC), respectively. The enucleation of the two groups was 7(19.4%, 7/36), 7(8.3%, 7/84); 33 (91.7%, 33/36) and 33 (39.3%, 33/84) eyes received the second treatment, respectively. There was no significant difference in the rate of enucleation between the two treatments (χ2=2.037, P=0.154). There was significant difference in the percentage of secondary treatment (χ2=27.937, P＜0.001). Fifty-four eyes (45.0%, 54/120) stabilized after initial treatment, and 66 eyes (55.0%, 66/120) underwent secondary treatments due to poor response or tumor recurrence. For 66 eyes receiving secondary treatments, enucleation, IAC, intravitreous chemotherapy (IVitC), IAC combined with IVitC, and laser and/or cryotherapy was performed in 6, 18, 12, 13, and 17 eyes, respectively. The number of eyes of enucleation among the IAC, IVitC, and IAC combined with IVitC group was 5 (27.8%, 5/18), 1 (9.3%, 1/12), and 2 (15.4%, 2/13) eyes, which was no significantly different (χ2=2.001, P=0.368). Until the last follow-up, visual acuity outcomes were acquired in 148 eyes (72.9%, 148/203). Among them, 41, 53, 16 and 38 eyes had no light perception, light perception to finger counting, 20/400, and ≥20/200, respectively. In total, among 203 eyes, 121 eyes received IAC, of which 2, 4, and 1 eyes had optic disc atrophy, vitreous hemorrhage, and severe retinal-choroidal atrophy, respectively; 60 eyes received IVitC, of which one and one eye had vitreous hemorrhage and macular hemorrhagic necrosis, respectively. ConclusionsIn this study, the overall survival rate was 94.9% after comprehensive treatment and the rate of global salvage after eye-preserving treatment was 91.7%. The comprehensive treatment of retinoblastoma had a relatively high efficacy and safety.
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.