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AIM: To report an atypical Adams-Oliver syndrome (AOS) family with typical ocular signs of familial exudative vitreoretinopathy (FEVR). METHODS: A patient with visible avascular area and obvious non-perfusion zone in the peripheral retina with systemic signs of AOS was reported. Familial and personal characteristics were collected for the patient and his sister. Gene sequencing and ophthalmic examinations including fluorescein angiography were all performed for the whole family. RESULTS: Two novel mutations of DOCK6 (c.1396C>T and c.4796G>A) were identified in the proband and his family, and two compound heterozygous mutations were revealed in the proband and his sister. The patient and his sister showed physical deformities and mental abnormalities while FEVR mimicking retinal disorder can also be defined. No remarkable ocular or systemic abnormality can be observed for their parents. Peripheral retinal non-perfusion area, obvious abnormal vascularization or even retinal fold were observed in the proband and his sister, while only small avascular zone was identified for their parents. CONCLUSION: This is the first genetic authenticated AOS case mimicked as FEVR with genetic sequencing of a family. For the patients with ocular phenotype of FEVR, further examination should be performed if the systemic or mental abnormalities exist.
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AIM: To compare ultra-widefield (24×20 mm2) swept-source optical coherence tomography angiography (SS-OCTA) and fluorescein angiography (FA) in the evaluation of diabetic retinopathy (DR) lesions. METHODS: Forty-six eyes of 23 patients with treatment-naïve DR were included at Peking University People's Hospital from September 1, 2021, until December 31, 2021, as well as 23 age and gender matched healthy controls. Quantitative assessments of DR lesions on FA and SS-OCTA (superficial capillary plexus, SCP, 24×20 mm2) were performed. RESULTS: Area of fovea avascular zone (FAZ) was larger in DR cases than controls (0.34±0.069 mm2 vs 0.287±0.108 mm2, P=0.006). In DR eyes, the mean FAZ area was 0.34±0.069 and 0.334±0.087 mm2 on SS-OCTA and FA, respectively (P=0.428), while the median FAZ perimeter was 2.382 (IQR, 2.201-2.59) and 2.333 (IQR, 2.138-2.6) mm on SS-OCTA and FA images (P=0.733). There was no significant difference in the size of the non-perfusion area (NPA) between the images on SS-OCTA and FA (12.389, IQR 4.96-28.3 and 11.125, IQR 5-28.31 mm2, P=0.197). The median total microaneurysm (MA) count was 35 (IQR, 19-46) and 73 (IQR, 43-93) on SS-OCTA and FA (P<0.001), respectively. No significant difference in intra-retinal microvascular abnormality (IRMA) and neovascularization (NV) count was found between the two techniques. The intraclass coefficient (ICCs) of all the parameters above indicated stable repeatability. CONCLUSION: Ultra-widefield SS-OCTA represents a reliable, noninvasive, and quantitative imaging technique in the assessment of microvasculature in DR, which offers a potential substitute for FA in DR evaluation.
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Purpose: To identify a novel corticotropin-releasing hormone (CRH) gene variant relevant in patients with central serous chorioretinopathy (CSC). Methods: We performed a genetic study of CSC in families and sporadic cases with controls. Using whole-exome sequencing and linkage analysis, we identified a heterozygous insertion variant, Gln52insPro, in the CRH gene that cosegregated in two Chinese families with CSC. This variant was evaluated among an additional 1307 patients with CSC and 1438 ethnicity-matched control individuals from three independent Chinese cohorts. Results: The CRH variant was strongly associated with CSC in these cohorts of Chinese patients (Pmeta = 1.24 × 10-11; odds ratio, 3.01; 95% confidence interval, 2.15-4.21). The risk variant Gln52insPro decreased CRH gene expression. Conclusions: Our results implicate the hypothalamic-pituitary-adrenal stress response system in the pathogenesis of CSC and provide a novel rationale for therapeutic intervention.
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Coriorretinopatía Serosa Central , Pueblo Asiatico , Coriorretinopatía Serosa Central/diagnóstico , Coriorretinopatía Serosa Central/genética , Ligamiento Genético , Humanos , Sistema Hipotálamo-Hipofisario/fisiología , Sistema Hipófiso-Suprarrenal/fisiologíaRESUMEN
AIM: To evaluate the efficacy and safety of ruthenium-106 (106Ru) plaque radiotherapy at a dose (>50 Gy) higher than recommended (29-50 Gy) for treatment of circumscribed choroidal hemangioma (CCH) in Chinese patients. METHODS: This retrospective study included 25 symptomatic CCH patients undergoing 106Ru plaque brachytherapy involving 25 eyes between January 2005 and August 2016. Ophthalmic examination was performed at the baseline and at each post-treatment follow-up visit, using best-corrected visual acuity (BCVA), dilated fundus examination, and B-scan ultrasonography. The primary efficacy outcome measures included the changes in BCVA and hemangioma dimensions at the last followup visit from the baseline. RESULTS: The mean follow-up duration was 28.0±26.6 (range, 12-110)mo. All the hemangiomas were located in the posterior pole except for two involving the fovea. The mean apex dose of 106Ru plaque radiotherapy was 84.4±19.7 Gy. The mean BCVA improved from 41.4±29.3 (0-97) at the baseline to 53.0±33.8 (0-97) ETDRS letters at the last visit (P=0.01). The mean hemangioma height declined from 3.98±0.88 (2.40-5.50) mm to 0.84±1.63 (0-6.47) mm (P≤0.001), and the greatest linear diameter (GLD) reduced from 9.36±2.23 (6.80-15.00) to 7.40±2.45 (0-13.00) mm (P≤0.001). Hemangioma size increased in one (4%) eye with a worsened vision, and subretinal fluid completely resolved in all but one patient (4%). Radiation-related retinopathy was observed in two patients at post-treatment 9 and 11mo, respectively. CONCLUSION: 106Ru plaque brachytherapy at a dose (>50 Gy) higher than recommended (29-50 Gy) is an effective treatment regimen for symptomatic CCH associated with significantly improved visual acuity and a favorable safety profile in Chinese patients.
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AIM: To evaluate the real-life clinical outcomes of intravitreal injection of conbercept combined rescue therapy for polypoidal choroidal vasculopathy (PCV). METHODS: This was an open label, single center, and interventional study. All enrolled patients were treated initially with three consecutive monthly intravitreal conbercept injections (0.5 mg). Additional conbercept injections were administered upon substantial polyp regression with improved visual acuity (VA). Eyes with partial or no polyp regression and poor VA were rescue treated with photodynamic therapy (PDT) for subfoveal polyps or thermal laser photocoagulation for extrafoveal polyps. Best-corrected visual acuity (BCVA), central foveal thickness (CFT) and polyp regression were observed as primary outcomes. Side effects were also collected during the follow-up period. RESULTS: A total of 56 eyes (56 patients) with PCV were included. BCVA increased significantly from the baseline of 43.52±24.21 letters to 55.88±21.94 letters (P<0.001) at 12mo, while CFT decreased significantly from 457.41±207.86 µm to 247.98±127.08 µm (P<0.001). All patients showed polyp regression. Twenty-three eyes achieved complete polyp regression after the three initial injections, which increased to 44 eyes at 12mo. Seventeen eyes underwent rescue therapy, among which 2 eyes treated with PDT and 15 eyes treated with laser photocoagulation. A mean of 4.30±1.43 injections were given per eye. No intraocular inflammation, retinal or vitreous hemorrhage, or systemic complication occurred. CONCLUSION: Conbercept is an effective and safe option for the treatment of PCV in Chinese population. The treatment regimen of three initial conbercept injections followed by additional injections or rescue therapies is efficacious for treating PCV.