Refractory macular holes typically represent macular holes larger than 400 μm, macular holes in pathological myopic eyes or complicated with myopic schisis, chronic holes longer than 6 months, persistent macular holes after surgeries, and some subtypes of secondary macular holes. A routine pars plana vitrectomy combined with internal limiting membrane peeling yielded a lower closure rate and unsatisfying visual rehabilitation in patients with refractory macular holes, which raised concerns among vitreoretinal surgeons. This editorial reviewed the new upcoming surgical techniques which were reportedly to improve the anatomical and visual prognosis of major subtypes of refractory macular holes. Although with a great variability, these surgical techniques are based the following surgical strategies: firstly, to sufficiently unravel the epi-macular tractional force; secondly, to bridge the defect of neurosensory retina by tissue insertion or implantation and stimulate wound healing process; thirdly, proper tamponade of gas or silicone oil so that the surface tension can stabilize the inserted or implanted tissue and encourage closure of the holes. In conclusion, surgical strategies for refractory macular holes should be made after a comprehensive consideration and a customized design.
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.