Restriction Fragment Length Polymorphism Analysis of Mutated Transthyretin in Vitreous Amyloidosis

Sandgren, Ola; Holmgren, Gösta; Lundgren, Erik; Steen, Lars

doi:10.1001/archopht.1988.01060130860040

Cited by 19 publications

(3 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There are also large differences in the manifestation of the disease, for instance in 5 Swedish patients the only manifesta tion of the TTR-met30 gene was vitreous amyloidosis at an age of more than 75 years [ 14].…”

Section: Introductionmentioning

confidence: 40%

Association of C3 and C4 A Complement Types with Familial Amyloidotic Polyneuropathy

Nylander

Beckman²,

Holmgren³

et al. 1990

Hum Hered

View full text Add to dashboard Cite

A mutant variant of the serum protein transthyretin (TTR-met³⁰) appears to be a necessary but not sufficient condition for the development of familial amyloidotic polyneuropathy (FAP). We have studied a number of serum protein markers (α₁-antitrypsin, properdin factor B, C3, C4A, C4B, haptoglobin, transferrin and group-specific component) in FAP patients and healthy controls in an attempt to identify additional pathogenic factors which may influence the risk for developing FAP in male and female patients as well as the age of onset of the disease. Statistically significant associations were found in the complement systems C3 and C4A. The C3F variant was significantly increased in all FAP patients with a relative risk (RR) of 2.0, more pronounced in female patients (RR = 2.6) and patients with an early onset of the disease (RR = 4.5). In the FAP patients only the variants A3 and A4 were found in the C4A system. C4A3 was found in all patients, which was significantly higher than in the controls. The remaining serum protein systems showed no statistically significant associations with FAP. The results suggest that genetic variants of complement factors C3 and C4A may interact with the mutant TTR-met³⁰ by modifying the expression and onset of FAP.

show abstract

Section: Introductionmentioning

confidence: 40%

Association of C3 and C4 A Complement Types with Familial Amyloidotic Polyneuropathy

Nylander

Beckman²,

Holmgren³

et al. 1990

Hum Hered

View full text Add to dashboard Cite

show abstract

“…In a previous study vitreous amyloidosis was the single symptom in five of the patients, at ages 74-86 years (Sandgren et al 1988). These differences in expressivity of the disorder support the assumption that other pathogenetic factors in addition to the variant transthyretin might influence the age of onset and duration of illness.…”

Section: Progress Of the Disease In Swedish Fap Ismentioning

confidence: 81%

Homozygosity for the transthyretin‐met³⁰‐gene in two Swedish sibs with familial amyloidotic polyneuropathy

et al. 1988

Self Cite

View full text Add to dashboard Cite

Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited disorder. Recent biochemical studies have revealed that amyloid protein in FAP of Japanese, Swedish and Portuguese origin mainly consists of a variant transthyretin (TTR) (formerly called prealbumin) with one amino acid substitution of methionine for valine at position 30. In a 56‐year‐old man with typical polyneuropathy, gastrointestinal problems and vitreous amyloid, we diagnosed homozygosity for the TTR‐met30‐gene using RFLP analysis. In a family study, a sister presented the same homozygous RFLP pattern; however, in a careful clinical investigation we were not able to demonstrate any of the typical symptoms of FAP, nor could we demonstrate amyloid deposits in a biopsy skin specimen. This is the first report of homozygosity for the TTR‐met30‐gene, and it shows that the mutation of the protein involved in amyloid formation may be necessary but is clearly not sufficient for the clinical symptoms.

show abstract

“…Previous studies reported that in Indian/Swiss kindred with the TTR Ile84 Ser mutation, essentially all affected individuals had vitreous opacities [9][10][11] . A few patients presented with only symptoms of vitreous amyloidosis 12,13 . In our current case series, we found them present with the symptoms of vitreous amyloidosis involving the retina, which we termed as vitreoretinal amyloidosis.…”

Section: Introductionmentioning

confidence: 99%

Vitreoretinal Amyloidosis: Clinical Features, OCT/A Insights, Gene Mutations, and Outcomes of Pars Plana Vitrectomy Surgery

Zhou

et al. 2022

Preprint

View full text Add to dashboard Cite

Purpose: To describe the OCT/A findings, surgical findings and outcomes of vitrectomy among 8 eyes of 4 patients with vitreoretinal amyloidosis. Participants: Eight eyes of 4 Asian patients with a diagnosis of vitreoretinal amyloidosis from Jan 10, 2008, to Sep 10, 2021. Methods: Detailed history-taking, ocular and systemic examinations and genetic analysis of transthyretin mutation were performed. Vitreous biopsy, followed by 23- to 25-G pars plana vitrectomy was performed in all patients, and followed up on days 1, 7, and 30 and then, every 3 months. Results: The mean age at presentation was 45 years, with a 1:1 female-to-male distribution. The median follow-up was 85.3 (2-150) months. The OCT/A features of the vertical hyperreflective lesions appeared as punctate with moderate or high reflectivity, affecting all layers of the neuroretina in 7 eyes of 4 patients (7 of 8 eyes [87.5%]), and subtle needle-shaped patterns in 6 of 8 eyes (75%). Cotton-wool or waxy vitreous with firm vitreous adhesions beyond the major arcades and along the secondary retinal vessels was observed during vitrectomy in all eyes. The preoperative best-corrected visual acuity (BCVA) was ≤ 20/200 in 4 eyes (50%), whereas the postoperative BCVA improved to 20/100 to 20/25 in all eyes (100%). No patients subsequently were observed to develop systemic amyloidosis or dysfunction during follow-up examinations. Conclusions: The clinical clues, OCT/A features, surgical strategy, and vitrectomy outcomes in vitreoretinal amyloidosis were highlighted. We propose the term vitreoretinal amyloidosis instead of vitreous amyloidosis mainly based on the OCT/A features in this report.

show abstract

Restriction Fragment Length Polymorphism Analysis of Mutated Transthyretin in Vitreous Amyloidosis

Cited by 19 publications

References 17 publications

Association of C3 and C4 A Complement Types with Familial Amyloidotic Polyneuropathy

Association of C3 and C4 A Complement Types with Familial Amyloidotic Polyneuropathy

Homozygosity for the transthyretin‐met³⁰‐gene in two Swedish sibs with familial amyloidotic polyneuropathy

Vitreoretinal Amyloidosis: Clinical Features, OCT/A Insights, Gene Mutations, and Outcomes of Pars Plana Vitrectomy Surgery

Contact Info

Product

Resources

About

Restriction Fragment Length Polymorphism Analysis of Mutated Transthyretin in Vitreous Amyloidosis

Cited by 19 publications

References 17 publications

Association of C3 and C4 A Complement Types with Familial Amyloidotic Polyneuropathy

Association of C3 and C4 A Complement Types with Familial Amyloidotic Polyneuropathy

Homozygosity for the transthyretin‐met30‐gene in two Swedish sibs with familial amyloidotic polyneuropathy

Vitreoretinal Amyloidosis: Clinical Features, OCT/A Insights, Gene Mutations, and Outcomes of Pars Plana Vitrectomy Surgery

Contact Info

Product

Resources

About

Homozygosity for the transthyretin‐met³⁰‐gene in two Swedish sibs with familial amyloidotic polyneuropathy