Objective To observe the efficacy of photodynamic therapy for vitelliform macular dystrophy(VMD) with choroidal neovascularization(CNV). Methods The clinical data of 7 patients (7 eyes) of VMD with CNV who had undergone photodynamic therapy (PDT) were retrospectively analyzed. The patients were 4 males and 3 females, aged from 20 to 54 years. The patients received the examinations of best corrected visual acuity (BCVA), slitlamp microscopy, fundus photography, fluorescein angiography (FFA), indocyanine green angiography (ICGA), spectral domain OCT(SD-OCT), electrooculogram（EOG）and electroretinogram (ERG)before and after PDT. The BCVA ranged from finger counting to 0.6. Retinal edema and the subretinal fluid were observed. The mean thickness of central retina was (506.00plusmn;30.71) mu;m. PDT was performed according to the standard treatment. The follow-up period ranged from 2 to 11 months with the mean of 6.3 months. The changes of BCVA, CNV and side effects were observed after treatment. Results BCVA improved in all patients ranging from 0.12 to 1.0. The regression of the CNV and resolution of the subretinal fluid were observed by FFA, ICGA and SD-OCT after PDT. The mean thickness of central retina was reduced to (401.00plusmn;52.22) mu;m. There was no PDTassociated ocular or systemic side effect. Conclusions PDT is an effective and safe treatment for VMD with CNV. It may improve or stabilize the visual acuity.
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.