Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation

Alejandre, Nicolás; Ruiz-Palacios, Ana; García‐Aparicio, Ángel; Blanco‐Kelly, Fiona; Bermúdez, Sandra; Fernández‐Sanz, Guillermo; Romero, F.; Aróstegui, Juan I.; Ayuso, Carmen; Jiménez-Alfaro, Ignacio; Herrero‐Beaumont, Gabriel; Sánchez‐Pernaute, Olga

doi:10.1093/rheumatology/ket486

Cited by 28 publications

(15 citation statements)

References 23 publications

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“…In this regard, the gradual loss of nerve fibers owing to optic disc alterations explains gradual visual loss in such patients [208]. Of note, retinal vasculitis, focal choroiditis, vitritis, band keratopathy, nummular stromal infiltration, corneal vascularization, and cataract are rare manifestations occasionally encountered in CINCA/NOMID [209,210], while midstromal changes, episcleritis, keratitis, and uveitis have been reported in MWS [211,212]. Lastly, eye involvement is mainly represented by conjunctivitis in FCAS patients.…”

Section: Ocular Manifestationsmentioning

confidence: 99%

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases

Gaggiano

Rigante

Vitale

et al. 2019

Mediators of Inflammation

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Monogenic autoinflammatory diseases (mAIDs) are inherited errors of innate immunity characterized by systemic inflammation recurring with variable frequency and involving the skin, serosal membranes, synovial membranes, joints, the gastrointestinal tube, and/or the central nervous system, with reactive amyloidosis as a potential severe long-term consequence. Although individually uncommon, all mAIDs set up an emerging chapter of internal medicine: recent findings have modified our knowledge regarding mAID pathophysiology and clarified that protean inflammatory symptoms can be variably associated with periodic fevers, depicting multiple specific conditions which usually start in childhood, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndrome, and mevalonate kinase deficiency. There are no evidence-based studies to establish which potential genotype analysis is the most appropriate in adult patients with clinical phenotypes suggestive of mAIDs. This review discusses genetic and clinical hints for an ideal diagnostic approach to mAIDs in adult patients, as their early identification is essential to prompt effective treatment and improve quality of life, and also highlights the most recent developments in the diagnostic work-up for the most frequent hereditary periodic febrile syndromes worldwide.

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Section: Ocular Manifestationsmentioning

confidence: 99%

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases

Gaggiano

Rigante

Vitale

et al. 2019

Mediators of Inflammation

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“…NLRP3 gain-of-function mutation results in excessive release of IL-1β, giving rise to cryopyrin-associated periodic syndrome (CAPS), a group of rare hereditary autoinflammatory diseases [4]. Several reports have shown evidence of ocular responses, including optic disc swelling [177], uveitis, keratitis, and conjunctivitis [178] in CAPS patients. Treatment of CAPS with anakinra, an interleukin-1 receptor antagonist, alleviates symptoms associated with autoinflammation [179].…”

Section: Nlrs In Diabetic Retinopathymentioning

confidence: 99%

NOD-like Receptors in the Eye: Uncovering Its Role in Diabetic Retinopathy

Lim

Wieser

Ganga

et al. 2020

IJMS

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Diabetic retinopathy (DR) is an ocular complication of diabetes mellitus (DM). International Diabetic Federations (IDF) estimates up to 629 million people with DM by the year 2045 worldwide. Nearly 50% of DM patients will show evidence of diabetic-related eye problems. Therapeutic interventions for DR are limited and mostly involve surgical intervention at the late-stages of the disease. The lack of early-stage diagnostic tools and therapies, especially in DR, demands a better understanding of the biological processes involved in the etiology of disease progression. The recent surge in literature associated with NOD-like receptors (NLRs) has gained massive attraction due to their involvement in mediating the innate immune response and perpetuating inflammatory pathways, a central phenomenon found in the pathogenesis of ocular diseases including DR. The NLR family of receptors are expressed in different eye tissues during pathological conditions suggesting their potential roles in dry eye, ocular infection, retinal ischemia, cataract, glaucoma, age-related macular degeneration (AMD), diabetic macular edema (DME) and DR. Our group is interested in studying the critical early components involved in the immune cell infiltration and inflammatory pathways involved in the progression of DR. Recently, we reported that NLRP3 inflammasome might play a pivotal role in the pathogenesis of DR. This comprehensive review summarizes the findings of NLRs expression in the ocular tissues with special emphasis on its presence in the retinal microglia and DR pathogenesis.

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“…Secondary amyloidosis is the main complication of this pathology, which can develop in 25% of the patients [40], and can result in chronic renal insufficiency. Ocular manifestations, such as conjunctivitis, uveitis, episcleritis, papillary edema or visual loss can be encountered in these patients [41,42].…”

Section: Muckle-wells Syndromementioning

confidence: 99%

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts

Sarrabay¹,

Grandemange

Touitou

2015

Expert Review of Clinical Immunology

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Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem autoinflammatory syndrome (NOMID/CINCA). Recurrent fevers, joint pain, and urticarial skin rash are the main clinical features of these conditions. Renal amyloidosis and sensorineural complications may occur. Gain-of-function mutations in NLRP3 gene are responsible for the overactivation of the NLRP3 inflammasome, a multimolecular complex involved in the inflammatory process. Missense mutations are almost always encountered, particularly in exon 3, which encodes the nucleotide-binding domain. Mosaicism is not rare, especially in CINCA/NOMID. Next-generation sequencing will grant access to new insights about NLRP3 implication in oligogenic and multifactorial diseases.

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Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation

Cited by 28 publications

References 23 publications

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases

NOD-like Receptors in the Eye: Uncovering Its Role in Diabetic Retinopathy

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts

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