ObjectiveTo observe the clinical manifestation and gene mutation of a pedigree with Sorsby fundus dystrophy (SFD). Methods Ten members in 3 generations of a pedigree with SFD were included in this study. Four patients were observed in the pedigree, including 2 females and 2 males. All 10 members underwent comprehensive ophthalmic examinations, including best-corrected visual acuity, intraocular pressure, slit-lamp biomicroscopy, indirect ophthalmoscopy, fundus color photography and spectral domain optical coherence tomography. Genomic DNA was extracted from peripheral venous blood which was collected from all the members. Relevant exons of ocular diseases were detected by the next generation sequencing method from the proband. The other members underwent Sanger verification. Results Among the four patients, fading eyesight was appeared at their 44, 46, 47 and 40 year-old respectively. The two male patients had bilateral morbidity, and the two female patients had monocular symptoms. DNA sequencing results showed that the proband, other 3 patients and 2 members from the Ⅲ generation had heterozygous mutation of TIMP3 gene in exon 5. The amino acid encoded by TIMP3 gene No.204 codon changed from serine to cysteine (TIMP3:NM_000362:Exon5:c.A610T/p.S204C). CoclusionsThe invasion time of all the patients in this pedigree is after their 40 year-old. Heterozygous mutation at c.610A＞T (p.S204C) in TIMP3 gene is the causative gene of SFD in this pedigree.
ObjectiveTo observe multimodal imaging characteristics in eyes with focal choroidal excavation (FCE) and preliminarily analyze the risk factors in FCE with complications correlated with RPE.MethodsA retrospective case series. Thirty-one patients (31 eyes) with monocular FCE, first identified by spectral-domain (SD)-OCT in the Eye Center of The Second People’s Hospital of Foshan from December 2014 to December 2018, were involved in this study. There were 14 males and 17 females, with the mean age of 45.84±13.57 years. All patients underwent BCVA, optometry, and SD-OCT examinations. FFA and ICGA were simultaneously performed in 3 FCE patients with RPE complications. The subfoveal choroidal thickness (SFCT) and excavation width were measured with enhanced depth imaging OCT (EDI-OCT). The eyes with FCE were divided into two groups (FCE alone group 17 eyes vs. FCE complication group 14 eyes), based on whether complicated by RPE dysfunction. Among 14 eyes of FCE complication group, 7 (22.6%) with choroidal neovascularization, 4 (12.9%) with central serous chorioretinopathy, 1 (3.2%) with polypoidal choroidal vasculopathy, and 2 (6.5%) with RPE detachment. No significant difference was found in the mean age (t=0.87), gender composition (χ2=0.06), ocular laterality (χ2=2.58), and spherical equivalent (t=−0.81) between two groups, respectively (P＞0.05), except that the BCVA was significantly different (t=−2.11, P＜0.05). The SFCT and excavation width of eyes in both groups and the ICGA imaging characteristics of eyes in FCE complication group were analyzed. Risk factors of FCE with RPE complications were analyzed by logistic regression analysis.ResultsThirty-three excavations were identified in 31 eyes with FCE. The mean SFCT was 167.00±85.18 μm in FCE alone group vs. 228.36±67.95 μm in FCE complication group, while the excavation width was 645.00±231.93 μm vs. 901.00±420.55 μm and they were both significantly different (P＜0.05). Logistic regression analysis showed the SFCT (OR=1.016, P=0.026) and excavation width (OR=1.004, P=0.034) were risk factors for RPE complications of FCE. EDI-OCT showed the RPE at the excavation was impaired or vulnerable in all eyes of the FCE alone group, especially at the boundary area of excavation. The RPE damages were located at the boundary area of excavation in 10 eyes (71.4%) of FCE complication group. Constant choroidal hypofluorescence and filling defect were observed under the excavation in 3 eyes with ICGA imaging.ConclusionsSFCT and excavation width may be risk factors for RPE complications of FCE. Impairment of RPE at boundary area of excavation and focal choroidal ischemia or aberrant circulation under the excavation may correlate with the development of FCE complications.
ObjectiveTo observe the clinical features of high myopia domed-shaped macula (DSM) complicated with choroidal neovascularization (CNV) and the efficacy of intravitreal injection of anti-vascular endothelial growth factor (VEGF). MethodsA retrospective clinical study. A total of 23 eyes of 23 patients with high myopia DSM combined with CNV diagnosed by ophthalmology examination in Department of Ophthalmology of The Second People's Hospital of Foshan from January 2019 to December 2023 were included in the study.Best corrected visual acuity (BCVA), intraocular pressure, optical coherence tomography (OCT) were performed in all eyes. BCVA tests are performed using the international standard visual acuity chart, which was statistically converted to logarithm of the minimum angle of resolution (logMAR) visual acuity. DSM height, central macular thickness (CMT) and choroidal thickness (ChT) were measured by OCT. According to OCT image features, DSM was divided into horizontal and vertical elliptic bulges and circular bulges. According to the literature standard, CNV was divided into subfoveal CNV and parafoveal CNV. All patients were treated with 0.05 ml intravitreal injection of ranibizumab or conbercept (IVR or IVC). The treatment regimen was 1+ on-demand treatment. The first IVR and IVC treatment were performed on 17 eyes and 6 eyes, respectively, and were divided into IVR group and IVC group. Follow-up time ≥1 month after treatment. The clinical features of the patients and the changes of BCVA, intraocular pressure, CMT and ChT after treatment were observed. Independent sample t test was used for comparison between groups. ResultsThere were 23 eyes in 23 cases, 7 males had 7 eyes and 16 females had 16 eyes. There were 11 and 12 eyes in the right and left eyes respectively. Age were (49±16) years old; logMAR BCVA was 0.94±0.39. Shapes of DSM were in 13 (56.52%, 13/23), 6 (26.09%, 6/23), and 4 (17.39%, 4/23) eyes, respectively. The dome height was (97.83±46.14) μm. CMT and ChT were (276.39±98.35) and (49.48±31.66) μm, respectively. There were 17 eyes in the IVR group, including 4 males and 13 females. There were 6 cases in the IVC group, 3 cases were male and 3 cases were female. At the last follow-up, logMAR BCVA and CMT were 0.60±0.39 and (209.96±71.38) μm, respectively. BCVA was significantly increased and CMT was significantly decreased compared with before treatment, with statistical significance (t=2.98, 2.62; P=0.005, 0.010). One month after treatment and at the last follow-up, there were no significant differences in the degree of BCVA improvement (t=1.47, 1.35), intraocular pressure change (t=−0.20, −0.56) and ChT reduction thickness (t=0.80, −0.62) between IVR group and IVC group (P＞0.05). The CMT of patients in IVR group and IVC group was decreased by (57.94±67.61), (83.17±78.37) μm and (13.33±9.73), (18.17±17.88) μm compared with that before treatment, respectively, and the differences were statistically significant (t=2.64, 3.21; P＜0.05). ConclusionsIVR or IVC in the treatment of high myopia DSM combined with CNV can effectively improve BCVA. The reduction of CMT with ranibizumab is better than conbercept.