Objective To evaluate the safety and efficacy of brilliant blue G (BBG) assisted internal limiting membrane (ILM) peeling on pathological myopic macular holes with retinal detachment.Methods This is a prospective and noncontrolled study. Twenty-seven high myopia patients （27 eyes） with macular holes and retinal detachment were enrolled. Routine examination was performed, including the best corrected visual acuity （BCVA）, intraocular pressure, slit lamp microscope with +90 D pre-set lens, A- or B-ultrasound,optical coherence tomography (OCT) and visual field. All patients received vitrectomy with BBG-assisted ILM peeling and C3F8 gas tamponade. The 5 followup visits were at the first day, the seventh day, the first month, the third month and the sixth month after surgery. The BCVA, intraocular pressure, visual field, macular hole and retinal reattachment were comparatively analyzed.Results The ILM of all patients were peeled completely by BBG staining. There were no major complications such as corneal edema, anterior chamber reaction, elevated intraocular pressure, visual field defects. At the first month after surgery, macular hole closed and retina reattached in 26 eyes （96.3%）, the macular hole did not close and retina redetached in one eye （25.9%）. At the sixth month after surgery, BCVA of 25 eyes （92.6%） increased, two eyes （7.4%） didnprime;t change, the difference was statistically significant （t＝6.08，Plt;0.05）.Conclusions BBG can fully stain ILM without any side effects. Vitrectomy with BBG-assisted ILM peeling is a safe and effective treatment for pathological myopic macular holes with retinal detachment.
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.