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.