Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation

2020 ◽  
Vol 7 (4) ◽  
pp. 515-519
Author(s):  
Felix Kleefeld ◽  
Fabian Knebel ◽  
Dennis Eurich ◽  
Imke Schatka ◽  
Elisabeth Blüthner ◽  
...  

Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a multisystemic disease usually presenting in a mixed neurological and cardiological phenotype. We present a case of hATTR amyloidosis associated with Leu55Arg mutation causing a form of familial oculo-leptomeningeal amyloidosis. Two brothers and their mother presented with severe autonomic neuropathy, loss of visual acuity and lepto-meningeal involvement. One patient suffered subarachnoid hemorrhage as a possible complication of cerebral involvement. The patients suffered from treatment-refractory weight loss and recurring vitreous opacities. RNA interference-based treatment has led to stabilization of autonomic and peripheral neuropathy but has had no effect on ocular symptoms.

2021 ◽  
pp. 112067212110065
Author(s):  
Pathma Thiagasorupan ◽  
Emmanuel Barreau ◽  
Gaël Gendron ◽  
Eric Frau ◽  
Cécile Cauquil ◽  
...  

Introduction: Vitrectomy may improve visual acuity of hereditary transthyretin amyloidosis (ATTRv) patients presenting with vitreous opacities but is associated with severe complications. The objective of this study is to report visual outcomes, early and late complications of a series of ATTRv patients who underwent vitrectomy in the French ATTRv reference center. Methods: This retrospective, single-center study, included all ATTRv patients who underwent vitrectomy between 2002 and 2017. Data were collected on pre and postoperative best corrected visual acuity (BCVA) and early and late postoperative complications. Results: A total of 21 eyes from 15 patients were included. The mean postoperative follow-up was 40 ± 20 months (6–160 months). BCVA increased from 0.7 ± 0.4 LogMAR preoperatively to 0.3 ± 0.4 LogMAR ( p = 0.003) at last postoperative visit. During follow-up, all initially glaucomatous eyes worsened, with three eyes (37%) requiring filtering surgery and two eyes (25%) had further vision loss. Among non-glaucomatous patients, four eyes (31%) developed glaucoma with two requiring trabeculectomy and one eye (8%) had further vision loss. Three eyes (three patients) presented with complications of amyloid angiopathy. Three eyes (three patients) experienced recurrence of vitreous deposits requiring surgical revision. Conclusion: Due to the potential complications, vitrectomy in ATTRv requires specific perioperative management and life-long postoperative monitoring.


Amyloid ◽  
2021 ◽  
pp. 1-7
Author(s):  
Zornitsa Pavlova ◽  
Stayko Sarafov ◽  
Tihomir Todorov ◽  
Andrey Kirov ◽  
Teodora Chamova ◽  
...  

2021 ◽  
Vol 132 ◽  
pp. S348-S349
Author(s):  
Emily Soper ◽  
Sabrina A. Suckiel ◽  
Giovanna Braganza ◽  
Amy Kontorovich ◽  
Eimear Kenny ◽  
...  

2011 ◽  
Vol 31 (14) ◽  
pp. 5495-5503 ◽  
Author(s):  
R. T. Ibad ◽  
J. Rheey ◽  
S. Mrejen ◽  
V. Forster ◽  
S. Picaud ◽  
...  

2021 ◽  
Vol 5 (2) ◽  
Author(s):  
Madbouhi K ◽  
◽  
Cherkaoui O ◽  

We report the case of an 18-year-old patient who consults for a loss of visual acuity in the right eye for 1 year. On clinical examination, visual acuity is 20/100. Eye tone is 12 mmhg. Examination of the anterior segment shows the existence of a cataract made up of whitish opacities corresponding to a congenital cerulean cataract (Figure 1). The treatment consisted of a cataract cure by phacoemulsification with good progress. Cerulean cataract is a rare congenital form of bluish tint, made up of whitish opacities in concentric layers with a radial arrangement at their center. Visual acuity is fairly good in childhood but may deteriorate later. In the literature, the incidence of cataracts in Down’s children ranges from 5% to 50%. In previous studies of congenital or infantile cataract, 3-5 % of cases were associated with Down’s syndrome [1].


2021 ◽  
Author(s):  
guangsen liu ◽  
Yue Li ◽  
Wei Wang ◽  
Lei Gao

Abstract Objective: To analyze the clinical features, treatment, and prognosis of endophthalmitis caused by a liver abscess.Methods: All cases of endogenous endophthalmitis caused by a liver abscess in our hospital in the past 7 years were analyzed retrospectively. The data collected included age, sex, history of diabetes, initial and final vision, pathogen, course of the disease, treatment, and prognosis.Results: 21 eyes of 19 patients were complicated with liver abscess. The average age was 55.9 ±9.8 years old, including 10 males (52.6%) and 9 females (44.4%), 13 patients complicated with diabetes (71.4%), 14 patients (66.7%) first went to the ophthalmology department for diagnosis and treatment and 5 with hepatobiliary surgery (33.3%). 14 patients had a fever before onset, with an average fever time of 5.8 days. Before treatment, the duration of ocular symptoms was 7.71 ±6.68 days, 5.71 ±1.25 days for patients who go to ophthalmology for diagnosis and treatment for the first time, and 12.2 ±3.58 days for patients who go to other departments. After treatment, the average visual acuity of 21 eyes was 0.013, and the average best-corrected visual acuity was 0.79. In the 21 eyes, vitreous fluid culture was positive in 7 eyes (33.3%), all of which were Klebsiella pneumonia. Among the 14 patients with fever during hospitalization, 5 cases were positive for blood microbial culture, all of which were Klebsiella pneumonia. After vitrectomy, the average visual acuity was improved by 4.90 ±2.47 letters and that of patients without vitrectomy was-0.25±0.16letters. The visual acuity of patients who underwent postoperative visual was significantly better than that of patients without postoperative visual (P<0.096). The visual acuity of patients without vitrectomy was significantly higher than that of patients without vitrectomy (P <0.01). 3 eyes (33.3%) of 9 eyes in the IVI group were removed because of uncontrolled inflammation, and 1 eye of 12 eyes in the PPV group was removed because of inflammation recurrence.Conclusion: The prognosis of endogenous endophthalmitis caused by liver abscess is generally poor, but early treatment can save part of the vision. The first visit non-ophthalmology department will delay the early diagnosis of the disease. Diabetes is an important risk factor for endogenous endophthalmitis and poor vision in patients with liver abscess. Klebsiella pneumonia is the main pathogen of intraocular infection. Vitrectomy combined with vitreous injection of antibiotics can improve the prognosis. A systematic and thorough treatment of a liver abscess is of great significance to prevent the recurrence of endophthalmitis in a liver abscess.


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