AIM: To investigate the clinical characteristics and genetic features of a Bietti crystalline dystrophy (BCD) proband in a Chinese family.
METHODS: A Chinese female diagnosed with BCD complicated by bilateral choroidal neovascularization (CNV) and her parents underwent complete ophthalmic examinations, including fundus autofluorescence (AF), fundus photography (FP), fundus fluorescein angiography (FFA), visual field testing, full-field electroretinography (ERG), optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). The sequencing of the CYP4V2 gene was performed to the whole family.
RESULTS: Bilateral tiny glittering crystal-like deposits and differing extent of atrophy of the retinal pigment epithelium (RPE) were found in the posterior pole of her fundus. The diffuse hypo-fluorescence shown on AF images and window defects shown on FFA both indicated the atrophy of the RPE and choriocapillaris. OCT showed the thinning of the RPE and choriocapillaris layer, ellipsoid zone (EZ) band defect and CNV in both eyes. OCTA images proofed bilateral type 2 CNV. The visual field test showed central and paracentral scotoma. ERG showed a slightly decreased b-wave in scotopic ERG. Gene sequencing identified three mutations of the CYP4V2 gene, c.802_807del, c.810delT, and c.1388G>A. The mutation c.1388G>A was a novel substitution mutation.
CONCLUSION: The novel mutation c.1388G>A may be a possible cause that could induce the clinical phenotype of BCD. 相似文献
AIM: To observe the clinical effect of pars plana vitrectomy (PPV) and silicone oil filling surgery combined with intraoperative posterior scleral staphyloma (PS) marginal retinal photocoagulation in the treatment of high myopic macular hole retinal detachment (MHRD) with PS.
METHODS: This was a retrospective clinical study. From May 2017 to March 2020, 62 MHRD patients with PS (62 eyes) were enrolled in the study. Patients were divided into 23G PPV combined with PS marginal retina intraoperative photocoagulation group (combined group) and conventional surgery group (conventional group), with 31 eyes in each. Triamcinolone acetonide and indocyanine green were used to remove the epiretinal membrane and the posterior macular inner limiting membrane (ILM). In the combined group, 2 to 3 rows of retinal photocoagulation were performed on the edge of the PS. The patients were followed up for an average of 8.34±3.21mo. The first retinal reattachment rate, macular hole closure rate, Duration of silicone oil tamponade, best corrected visual acuity (BCVA) and average number of operations were observed and compared between the two groups.
RESULTS: The first retinal reattachment rates of the eyes in the combined group and the conventional group were 96.7% (29/31) and 67.7% (21/31), respectively (χ2=6.613, P=0.010). The macular hole closure rates in the combined group and the conventional group were 74.2% (23/31) and 67.7% (21/31), respectively (χ2=0.128, P=0.721). The Duration of silicone oil tamponade of the patients in the combined group was lower than that of the routine group (t=-41.962, P≤0.001). Postoperative logMAR BCVA values of patients in the combined group and the conventional group were 1.27±0.12 and 1.26±0.11, compared with the logMAR BCVA before surgery, each group was improved (t=19.947, t=-19.517, P≤0.001, P≤0.001). There was no significant difference in the logMAR BCVA between the eyes of the two groups (t=-0.394, P=0.695). The average numbers of operations on the eyes in the conventional group and the combined group were 2.39±0.62 and 2.06±0.25 times, the combined group had fewer operations on average (t=-2.705, P=0.009).
CONCLUSION: Intraoperative PPV treatment of MHRD with PS combined with PS marginal endolaser photocoagulation can effectively increase the rate of retinal reattachment after the first operation, reduce the number of repeated operations, and reduce the postoperative duration of silicone oil tamponade. 相似文献