The protean ocular involvement in monogenic autoinflammatory diseases: state of the art

Vittoria Bascherini, Carmela Granato, Giuseppe Lopalco, Giacomo Emmi, Lorenzo Vannozzi, Daniela Bacherini, Rossella Franceschini, Florenzo Iannone, Annabella Salerni, Francesco Molinaro, Mario Messina, Bruno Frediani, Carlo Selmi, Donato Rigante, Luca Cantarini

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Ocular involvement is frequent in the monogenic autoinflammatory disorders and generally occurs as spontaneously recurring inflammatory events at different ocular sites caused by the aberrant release of proinflammatory cytokines, mainly IL-1β. Over the past decade, we witnessed a significant growth of eye abnormalities associated with idiopathic granulomatous disorders, familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and cryopyrin-associated periodic syndrome. The pathogenetic mechanisms of these disorders have shown the evidence of disrupted cytokine signaling, but the explanation for the heterogeneous ocular involvement remains to be elucidated. We herein review the monogenic autoinflammatory disorders affecting the eye, describing their main clinical features with specific regard to the ocular involvement, which can lead to decreased visual acuity and even blindness, if the primary disorder is undetected or left untreated.

Original languageEnglish (US)
Pages (from-to)1171-1180
Number of pages10
JournalClinical Rheumatology
Volume34
Issue number7
DOIs
StatePublished - Jul 23 2015

Fingerprint

Mevalonate Kinase Deficiency
Cryopyrin-Associated Periodic Syndromes
Eye Abnormalities
Cytokines
Familial Mediterranean Fever
Blindness
Interleukin-1
Visual Acuity
Growth
Autosomal Dominant Familial Periodic Fever

Keywords

  • Anakinra
  • Biologics
  • Canakinumab
  • Eye
  • Interleukin (IL)-1β
  • Uveitis

ASJC Scopus subject areas

  • Rheumatology

Cite this

Bascherini, V., Granato, C., Lopalco, G., Emmi, G., Vannozzi, L., Bacherini, D., ... Cantarini, L. (2015). The protean ocular involvement in monogenic autoinflammatory diseases: state of the art. Clinical Rheumatology, 34(7), 1171-1180. https://doi.org/10.1007/s10067-015-2920-3

The protean ocular involvement in monogenic autoinflammatory diseases : state of the art. / Bascherini, Vittoria; Granato, Carmela; Lopalco, Giuseppe; Emmi, Giacomo; Vannozzi, Lorenzo; Bacherini, Daniela; Franceschini, Rossella; Iannone, Florenzo; Salerni, Annabella; Molinaro, Francesco; Messina, Mario; Frediani, Bruno; Selmi, Carlo; Rigante, Donato; Cantarini, Luca.

In: Clinical Rheumatology, Vol. 34, No. 7, 23.07.2015, p. 1171-1180.

Research output: Contribution to journalArticle

Bascherini, V, Granato, C, Lopalco, G, Emmi, G, Vannozzi, L, Bacherini, D, Franceschini, R, Iannone, F, Salerni, A, Molinaro, F, Messina, M, Frediani, B, Selmi, C, Rigante, D & Cantarini, L 2015, 'The protean ocular involvement in monogenic autoinflammatory diseases: state of the art', Clinical Rheumatology, vol. 34, no. 7, pp. 1171-1180. https://doi.org/10.1007/s10067-015-2920-3
Bascherini V, Granato C, Lopalco G, Emmi G, Vannozzi L, Bacherini D et al. The protean ocular involvement in monogenic autoinflammatory diseases: state of the art. Clinical Rheumatology. 2015 Jul 23;34(7):1171-1180. https://doi.org/10.1007/s10067-015-2920-3
Bascherini, Vittoria ; Granato, Carmela ; Lopalco, Giuseppe ; Emmi, Giacomo ; Vannozzi, Lorenzo ; Bacherini, Daniela ; Franceschini, Rossella ; Iannone, Florenzo ; Salerni, Annabella ; Molinaro, Francesco ; Messina, Mario ; Frediani, Bruno ; Selmi, Carlo ; Rigante, Donato ; Cantarini, Luca. / The protean ocular involvement in monogenic autoinflammatory diseases : state of the art. In: Clinical Rheumatology. 2015 ; Vol. 34, No. 7. pp. 1171-1180.
@article{7f9248922cda4eb8ac80e92a4f2cdfad,
title = "The protean ocular involvement in monogenic autoinflammatory diseases: state of the art",
abstract = "Ocular involvement is frequent in the monogenic autoinflammatory disorders and generally occurs as spontaneously recurring inflammatory events at different ocular sites caused by the aberrant release of proinflammatory cytokines, mainly IL-1β. Over the past decade, we witnessed a significant growth of eye abnormalities associated with idiopathic granulomatous disorders, familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and cryopyrin-associated periodic syndrome. The pathogenetic mechanisms of these disorders have shown the evidence of disrupted cytokine signaling, but the explanation for the heterogeneous ocular involvement remains to be elucidated. We herein review the monogenic autoinflammatory disorders affecting the eye, describing their main clinical features with specific regard to the ocular involvement, which can lead to decreased visual acuity and even blindness, if the primary disorder is undetected or left untreated.",
keywords = "Anakinra, Biologics, Canakinumab, Eye, Interleukin (IL)-1β, Uveitis",
author = "Vittoria Bascherini and Carmela Granato and Giuseppe Lopalco and Giacomo Emmi and Lorenzo Vannozzi and Daniela Bacherini and Rossella Franceschini and Florenzo Iannone and Annabella Salerni and Francesco Molinaro and Mario Messina and Bruno Frediani and Carlo Selmi and Donato Rigante and Luca Cantarini",
year = "2015",
month = "7",
day = "23",
doi = "10.1007/s10067-015-2920-3",
language = "English (US)",
volume = "34",
pages = "1171--1180",
journal = "Clinical Rheumatology",
issn = "0770-3198",
publisher = "Springer London",
number = "7",

}

TY - JOUR

T1 - The protean ocular involvement in monogenic autoinflammatory diseases

T2 - state of the art

AU - Bascherini, Vittoria

AU - Granato, Carmela

AU - Lopalco, Giuseppe

AU - Emmi, Giacomo

AU - Vannozzi, Lorenzo

AU - Bacherini, Daniela

AU - Franceschini, Rossella

AU - Iannone, Florenzo

AU - Salerni, Annabella

AU - Molinaro, Francesco

AU - Messina, Mario

AU - Frediani, Bruno

AU - Selmi, Carlo

AU - Rigante, Donato

AU - Cantarini, Luca

PY - 2015/7/23

Y1 - 2015/7/23

N2 - Ocular involvement is frequent in the monogenic autoinflammatory disorders and generally occurs as spontaneously recurring inflammatory events at different ocular sites caused by the aberrant release of proinflammatory cytokines, mainly IL-1β. Over the past decade, we witnessed a significant growth of eye abnormalities associated with idiopathic granulomatous disorders, familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and cryopyrin-associated periodic syndrome. The pathogenetic mechanisms of these disorders have shown the evidence of disrupted cytokine signaling, but the explanation for the heterogeneous ocular involvement remains to be elucidated. We herein review the monogenic autoinflammatory disorders affecting the eye, describing their main clinical features with specific regard to the ocular involvement, which can lead to decreased visual acuity and even blindness, if the primary disorder is undetected or left untreated.

AB - Ocular involvement is frequent in the monogenic autoinflammatory disorders and generally occurs as spontaneously recurring inflammatory events at different ocular sites caused by the aberrant release of proinflammatory cytokines, mainly IL-1β. Over the past decade, we witnessed a significant growth of eye abnormalities associated with idiopathic granulomatous disorders, familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and cryopyrin-associated periodic syndrome. The pathogenetic mechanisms of these disorders have shown the evidence of disrupted cytokine signaling, but the explanation for the heterogeneous ocular involvement remains to be elucidated. We herein review the monogenic autoinflammatory disorders affecting the eye, describing their main clinical features with specific regard to the ocular involvement, which can lead to decreased visual acuity and even blindness, if the primary disorder is undetected or left untreated.

KW - Anakinra

KW - Biologics

KW - Canakinumab

KW - Eye

KW - Interleukin (IL)-1β

KW - Uveitis

UR - http://www.scopus.com/inward/record.url?scp=84931561065&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84931561065&partnerID=8YFLogxK

U2 - 10.1007/s10067-015-2920-3

DO - 10.1007/s10067-015-2920-3

M3 - Article

C2 - 25833143

AN - SCOPUS:84931561065

VL - 34

SP - 1171

EP - 1180

JO - Clinical Rheumatology

JF - Clinical Rheumatology

SN - 0770-3198

IS - 7

ER -