Recurrence of Vitreous Amyloidosis and Need of Surgical Reintervention in Portuguese Patients With Familial Amyloidosis Attr V30m

Beirão, Nuno M.; Matos, Eduarda; Beirão, Idalina; Costa, Paulo; Torres, Pedro

doi:10.1097/iae.0b013e318203c0c2

Cited by 25 publications

(22 citation statements)

References 31 publications

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“…29 Extensive vitrectomy can prevent the recurrence of vitreous amyloidosis. 12 In our case, the lesions remain unchanged on OCT at 1 year postoperatively. However, we observed an area of hyperreflective lesion on red-free confocal ophthalmoscope.…”

Section: Mutation Analysismentioning

confidence: 62%

“…30 However, good visual acuity of patients with TTR-related vitreous amyloidosis had been previously reported. 8,12 The visual acuity of the index case in our study recovered after the surgery. Further, the TTR knockout mice did not show any abnormalities 31 in ocular structure or ERG compared with wild-type mice.…”

Section: Mutation Analysismentioning

confidence: 72%

“…[9][10][11] Although the vitreous opacity can be removed by vitrectomy, there is recurrence in some cases. 12 We report the ocular phenotypes using multimodal imaging techniques and genetic analysis in a Chinese kindred with FAP and vitreous amyloidosis.…”

Section: Introductionmentioning

confidence: 99%

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Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation

Chen

et al. 2014

Eye

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Objective To investigate the ocular phenotype and gene mutation of a Chinese pedigree with familial amyloid polyneuropathy (FAP) and vitreous amyloidosis. Methods A Chinese pedigree with familial amyloid polyneuropathy and vitreous amyloidosis was recruited. Combined phacoemulsification, vitrectomy and intraocular lens implantation were performed on the right eye of the index patient. Ophthalmic investigations were performed before and after surgery. The DNA from the pedigree was sequenced for the transthyretin (TTR) gene. Results After vitrectomy, the best-corrected visual acuity of the patient improved from counting finger to 20/20. Red-free confocal ophthalmoscopy demonstrated perifoveal ring and several perivessel white sheaths. Optical coherence tomography (OCT) revealed cotton wool like reflections on the vitreoretinal interface. Electroretinogram and autofluorescence was normal. Amyloid was present in the vitreous specimen. A substitution of T to G at nucleotide 381 in exon 4 of TTR DNA (Ile107Met) was found. This mutation co-segregated with phenotype in the pedigree and was not detected in 200 controls. Conclusions TTR Ile107Met mutation is associated with vitreous amyloidosis and FAP. OCT and red-free imaging are helpful in identifying amyloid deposits in the retina.

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Section: Mutation Analysismentioning

confidence: 62%

Section: Mutation Analysismentioning

confidence: 72%

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Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation

Chen

et al. 2014

Eye

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“…The recurrence of vitreous opacities after vitrectomy has been described in some series [24, 25]. Beirão et al [26] detected new amyloid deposits in all eyes submitted to nonextensive vitrectomy. This should be prevented with an extraction, as complete as possible, of vitreous, particularly behind the posterior capsule of lens.…”

Section: Discussionmentioning

confidence: 99%

Vitreous Amyloidosis as the Presenting Symptom of Familial Amyloid Polyneuropathy TTR Val30Met in a Portuguese Patient

Seca

Ferreira

Coelho

2014

Case Rep Ophthalmol

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“…The clinical picture is dominated by a mixed sensory, motor, and autonomic neuropathy; severe nephrological, cardiac, ophthalmological, vesical, gastrointestinal, sexual, and central nervous system symptoms are related to systemic amyloid deposition [14,15,16,17,18]. …”

Section: Introductionmentioning

confidence: 99%

Psychopathological Dimensions in Portuguese Subjects with Transthyretin Familial Amyloid Polyneuropathy

et al. 2017

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Background: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a fatal, chronic, progressive disease. It is a rare hereditary amyloidosis, which manifests as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood. Aims and Methods: Our aim is to evaluate psychopathological dimensions in a population attending a consultation center for TTR-FAP. Two hundred and nine subjects (symptomatic and asymptomatic carriers), 84 men and 127, women participated in the study. Most subjects were married (67.1%) and most of them were still working; 33% were retired from work or on a sick leave. A sociodemographic questionnaire and The Brief Symptom Inventory (BSI) were applied. Statistical analysis was performed (descriptive analysis, Mann-Whitney, Wilcoxon, and Spearman tests). Results: The Global Symptom Index (GSI) was significantly higher in patients (p = 0.001). Considering GSI, 32.7% of total subjects were above the median for general population. When subgroups were evaluated, 25.6% of symptomatic carriers, 26.3% of subjects without established diagnosis, and 39.1% of patients were above median. GSI was significantly higher in patients (p = 0.001). Some BSI dimensions were also significantly higher in the patient group (somatization, depression, anxiety, and psychoticism) when compared with carriers. Women scored higher than men. Sick women scored higher for all dimensions except somatization. Asymptomatic carriers scored statistically higher for phobic anxiety (p = 0.01), interpersonal sensitivity, anxiety, and depression. In patients, most dimensions and GSI (rho = 0.33, p = 0.002) had positive correlations with years of disease. Conclusions: TTR-FAP patients and carriers are a very vulnerable group for psychological distress and psychopathological problems. Women and patients are at higher risk.

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Recurrence of Vitreous Amyloidosis and Need of Surgical Reintervention in Portuguese Patients With Familial Amyloidosis Attr V30m

Abstract: Recurrence of amyloid deposition only occurred in nonextensive vitrectomized eyes and represents a false recurrence associated with incomplete vitrectomy.

Cited by 25 publications

References 31 publications

Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation

Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation

Vitreous Amyloidosis as the Presenting Symptom of Familial Amyloid Polyneuropathy TTR Val30Met in a Portuguese Patient

Psychopathological Dimensions in Portuguese Subjects with Transthyretin Familial Amyloid Polyneuropathy

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