Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease

D Adams, H Koike, M Slama, T Coelho - Nature Reviews Neurology, 2019 - nature.com
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis with polyneuropathy (also
known as familial amyloid polyneuropathy) is a condition with adult onset caused by …

Ocular involvement in hereditary amyloidosis

AM Minnella, R Rissotto, E Antoniazzi, M Di Girolamo… - Genes, 2021 - mdpi.com
The term amyloidosis describes a group of rare diseases caused by protein conformation
abnormalities resulting in extracellular deposition and accumulation of insoluble fibrillar …

Ultrastructure in transthyretin amyloidosis: from pathophysiology to therapeutic insights

H Koike, M Katsuno - Biomedicines, 2019 - mdpi.com
Transthyretin (TTR) amyloidosis is caused by systemic deposition of wild-type or variant
amyloidogenic TTR (ATTRwt and ATTRv, respectively). ATTRwt amyloidosis has …

Assessment of patients with hereditary transthyretin amyloidosis–understanding the impact of management and disease progression

I Conceição, T Coelho, C Rapezzi, Y Parman, L Obici… - Amyloid, 2019 - Taylor & Francis
Timely diagnosis of hereditary variant transthyretin (ATTRv) amyloidosis is critical for
appropriate treatment and optimal outcomes. Significant differences are seen between …

Challenges in posterior uveitis—tips and tricks for the retina specialist

M Paez-Escamilla, S Caplash, G Kalra, J Odden… - Journal of Ophthalmic …, 2023 - Springer
Purpose Posterior uveitis is a common chorioretinal pathology affecting all ages worldwide
and is a frequent reason for referral to the retina clinic. The spectrum of etiologies for uveitis …

Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis

JN Buxbaum, T Brannagan III, J Buades-Reinés… - Amyloid, 2019 - Taylor & Francis
Background: Ocular abnormalities have been known to occur in hereditary amyloidotic
polyneuropathy since the 1950s. While vitreous opacities and scalloped pupils were …

Ophthalmologic involvement in patients with hereditary transthyretin amyloidosis

J Ruiz-Medrano, M Puertas, E Almazán-Alonso… - Retina, 2023 - journals.lww.com
Purpose: The aim of this study was to determine the ophthalmologic involvement in patients
with hereditary transthyretin amyloidosis and its correlation with the mutations described in …

Small gauge vitrectomy for vitreous amyloidosis and subsequent management of secondary glaucoma in patients with hereditary transthyretin amyloidosis

S Kakihara, T Hirano, A Imai, T Miyahara, T Murata - Scientific Reports, 2020 - nature.com
We conducted a retrospective observational study including 31 eyes of 20 patients in order
to investigate the efficacy of 25-gauge vitrectomy for vitreous opacity with minimal …

Ophthalmological involvement in wild‐type transthyretin amyloidosis: A multimodal imaging study

L Frizziero, A Salvalaggio, E Cosmo… - Journal of the …, 2023 - Wiley Online Library
Abstract Background and Aims Ophthalmological abnormalities have been reported in
hereditary transthyretin‐related amyloidosis (ATTRv, v for variant) but not in wild‐type …

Differential diagnosis of vitritis in adult patients

S Touhami, M Leclercq, D Stanescu-Segall… - Ocular Immunology …, 2021 - Taylor & Francis
The term “vitritis” refers to the presence of a cellular infiltration of the vitreous body, usually in
the context of an intraocular inflammation, but not exclusively. Intermediate uveitis is the …