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Hereditary thyroxine protein amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, characterized by autosomal dominant inheritance, incomplete penetrance, and diverse manifestations. ATTRv deposition leads to visual impairment and even irreversible visual loss, which has a negative impact on the quality of life of patients. The diagnostic rate of pathological examination and genetic testing in ATTRv patients is low, and the detection rate of systemic amyloid lesions is low. We need to increase our awareness of this disease and gain a deeper understanding of its systemic manifestations and corresponding examination methods; genetic testing is conducted on the proband's family to investigate the relationship between different gene mutations and eye manifestations. In the future, multidisciplinary consultations can be conducted to jointly diagnose and treat patients with ATTRv eye involvement, conducting large-scale and long-term follow-up studies on the early clinical characteristics, treatment plans, efficacy, possible complications, and early prevention, in order to improve clinical diagnosis rate, reduce misdiagnosis rate, and improve patient prognosis.
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Objective:To observe the clinical characteristics of patients with familial vitreous amyloidosis (FVA) and the efficacy of vitrectomy (PPV) and the occurrence of complications.Methods:A retrospective clinical study. From June 2009 to March 2020, 32 eyes of 18 patients from 3 FVA families who were diagnosed and treated by PPV at Department of Ophthalmology of Jiaxing TCM Hospital were included in the study. Among them, there were 12 males with 22 eyes and 6 females with 10 eyes. The average age of onset was 42.28±3.25 years; the average duration of disease was 3.75±3.93 years. All the affected eyes underwent best corrected visual acuity (BCVA) and B-mode ultrasound examination. A logarithmic visual acuity chart was used in the BCVA examination, which was converted to the logarithmic minimum angle of resolution (logMAR) visual acuity when recorded. The average logMAR BCVA of the affected eye was 1.72±0.53; the intraocular pressure was less than 21 mm Hg (1 mm Hg=0.133 kPa). The vitreous body of the affected eye was obviously cloudy. All the affected eyes underwent standard three-channel PPV through the flat part of the ciliary body, and vitreous specimens were collected for pathological examination during the operation. Peripheral venous blood of probands from 3 families was collected, and the whole exome gene sequencing was performed. The follow-up time after surgery was ≥6 months. The patient's clinical characteristics, fundus lesions in PPV, changes in BCVA after surgery, and complications was observed. One-way analysis of variance or t test was performed for measurement data comparison; χ2 test was performed for count data comparison. Results:The vitreous body of the affected eye showed gray-white dense and thick flocculent changes, and the posterior capsule attached to the lens showed "foot disc-like" turbidity; later the lens was mainly cystic opacity. Pathological examination of the vitreous body showed positive staining of Congo red; under a polarized light microscope, it showed apple green dots and sheet-like birefringence. The genetic test results showed that there was a c.307G>C (p.Gly103Arg) missense mutation in the TTR gene of the proband in Family 2. Peripheral retinal hemorrhages in 4 eyes (12.5%, 4/32), retinal tears in 5 eyes (15.6%, 5/32), retinal degeneration in 4 eyes (12.5%, 4/32), retinal detachment were found in PPV 3 eyes (9.4%, 3/32). The vitreous body was filled with C 3F 8 and silicone oil respectively for 2, 1 eye. Six months after the operation, the logMAR BCVA of the affected eye was 0.39±0.32, which was significantly higher than that before the operation, and the difference was statistically significant ( t=15.131, P=0.000). After the operation, high intraocular pressure occurred in 2 eyes (6.3%, 2/32), secondary glaucoma in 1 eye (3.1%, 1/32), retinal detachment in 2 eyes (6.3%, 2/32), neovascular glaucoma (NVG) in 2 eyes (6.3%, 2/32), cataract in 10 eyes (31.3%, 10/32). Conclusion:The vitreous body of FVA eyes are gray-white dense, thick and flocculent, attached to the posterior lens capsule, showing "foot disc-like" turbidity; PPV treatment can effectively improve the BCVA of the FVA eyes; secondary glaucoma, secondary retinal detachment, NVG can occur after surgery.
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Retinal vein occlusion (RVO) is characterized by obstruction of retinal vein blood flow, distended flexion, retinal hemorrhage, edema, and neovascularization, and its pathogenesis is not completely clear. Recent studies have found that endothelin (ET)-1, ETA receptor and ETA signaling pathways in the ET system may be involved in the occurrence and development of RVO by stimulating vasoconstriction to increase retinal vein pressure and inducing the expression of pro-inflammatory factors such as TNF-α, IL-6 and IL-1β. In-depth understanding of the correlation between the ET system and the occurrence and development of RVO can provide new ideas for further research on the pathogenesis of RVO.
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Objective:To observe and analyze the risk factors related to vitreous re-hemorrhage (PVH) after anti-VEGF drugs combined with vitrectomy (PPV) in patients with proliferative diabetic retinopathy (PDR).Methods:Retrospective analysis study. From April 2017 to July 2018, 100 eyes of 87 PDR patients who were diagnosed in Jiaxing Eye Hospital and received anti-VEGF drugs combined with 25G PPV were included in the study. Among them, there were 44 eyes in 38 males and 56 eyes in 49 females. The age ranged from 26 to 83 years, with an average age of 57.72±8.82 years. All patients were type 2 diabetes, with an average duration of diabetes 10.84±6.03 years. All affected eyes were assisted by the same doctor with a non-contact wide-angle lens under the standard three-channel 25G PPV of the flat part of the ciliary body. Five to 7 days before the operation, intravitreal injection of ranibizumab or conbercept 0.05 ml (10 mg/ml) was performed. The incidence of PVH was observed. The age of PVH patients, duration of diabetes, vision before operation, average fasting blood glucose and average postprandial blood glucose before operation, systolic blood pressure and diastolic blood pressure before surgery, laser treatment before surgery, lens removal during operation, intraocular filling during operation, retinal laser points during operation, and fundus lesions during operation (hyperplasia film, Retinal hemorrhage, vascular occlusion, proliferative retinal traction, retinal hiatus, retinal detachment, exudation, neovascularization) were analyzed to find out the cause of PVH. Spearman bivariate correlation analysis and binary logistic regression analysis were performed on the data.Results:Of the 100 eyes of 87 patients, PVH occurred in 17 eyes (17%). There were statistically significant differences in the number of eyes with vascular occlusion and proliferative traction during surgery in patients with and without PVH ( χ2=5.741, 8.103; P<0.05). There was no significant difference in age ( t=-1.364), duration of diabetes ( t=0.538), preoperative vision ( t=1.897), preoperative fasting blood glucose level ( t=1.938), preoperative postprandial blood glucose level ( t=1.508), preoperative systolic blood pressure ( t=-0.571), preoperative diastolic blood pressure ( t=0.275), whether received laser treatment ( χ2=2.678), the number of laser points during operation ( t=0.565), whether received lens removal during operation ( χ2=0.331), whether found new blood vessels during operation ( χ2=2.741) and whether received intraocular filling during operation ( χ2=0.060) between the patients with and without PVH ( P>0.05). Spearman's bivariate correlation analysis showed that patients with low vision, poor control of fasting blood glucose levels, vascular occlusion and proliferative retinal traction during the operation were related risk factors for PVH ( rs=0.208, 0.229, 0.240, 0.285; P<0.05). Binary logistic regression analysis showed that fundus vascular occlusion and hyperplastic retinal traction may be independent risk factors for PVH during surgery ( OR=5.175, 13.915; P<0.05). Conclusion:Fundus vascular occlusion and retinal traction caused by fibrovascular membrane hyperplasia in PPV may be independent risk factors for PVH in patients with PDR after anti-VEGF drugs combined with PPV.
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Hereditary vitreous degeneration muddy is rare in clinic. Here we report ten cases (thirteen eyes) of hereditary vitreous degeneration muddy from two families. All patients presented with vitreous opacity, and the textures appeared tough and tensile. Two cases had concurrent detachment of rhegmatogenous retina. HE staining showed red changeableness, and methyl violet staining appeared purple. All patients received vitrectomy with traditional Chinese medicine treatment, and got satisfactory efficacy.