Buscar

Estamos realizando la búsqueda. Por favor, espere...

 Detalle_Publicacion

Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study

Abstract: Objectives: Ophthalmologic involvement in monogenic autoinflammatory diseases has been explored mainly in paediatric patients. The aim of this study is to characterise ophthalmologic manifestations, therapeutic management and visual outcomes in a Spanish (UVESAI) cohort of adult/paediatric patients with monogenic autoinflammatory diseases. Methods: Multicentre and retrospective study of patients with monogenic autoinflammatory diseases and ocular involvement. Eye manifestations, structural complications, treatments used and visual outcomes were analysed, and compared with previous studies. Results: Forty-six patients (44/2 adults/children; 21/25 adult/paediatric-onset) with monogenic autoinflammatory diseases [cryopyrin associated periodic syndromes (n=13/28.3%), mainly Muckle-Wells syndrome (MWS) (n=11/24%); familial Mediterranean fever (FMF) (n=12/26%); TNF receptor-associated periodic syndrome (TRAPS); (n=9/20%); Blau syndrome (n=8/17%); hyperimmunoglobulin D syndrome (HIDS) (n=2/4.3%), deficiency of adenosine deaminase-2 and NLRC4-Autoinflammatory disease] (one each) were included. Conjunctivitis (n=26/56.5%) and uveitis (n=23/50%) were the most frequent ocular manifestations. Twelve (26.1%) patients developed structural complications, being cataracts (n=11/24%) and posterior synechiae (n=10/22%) the most frequent. Conjunctivitis predominated in TRAPS, FMF, MWS and HIDS (mainly in adults), and uveitis, in Blau syndrome. Seven (8%) eyes (all with uveitis) presented with impaired visual acuity. Local and systemic treatment led to good visual outcomes in most patients. Compared with previous studies mainly including paediatric patients, less severe ocular involvement was observed in our adult/paediatric cohort. Conclusions: Conjunctivitis was the most common ocular manifestation in our TRAPS, FMF, MWS and HIDS patients, and uveitis predominated in Blau syndrome. Severe eye complications and poor visual prognosis were associated with uveitis. Adults with monogenic autoinflammatory diseases seem to exhibit a less severe ophthalmologic presentation than paediatric patients

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Clinical and Experimental Rheumatology, 2023, 41(10), 2105-2114

Editorial: Clinical and Experimental Rheumatology

 Año de publicación: 2023

Nº de páginas: 10

Tipo de publicación: Artículo de Revista

 DOI: 10.55563/clinexprheumatol/ukegcc

ISSN: 0392-856X,1593-098X

Autoría

FONOLLOSA, A.

PELEGRIN, L.

GARCÍA MORILLO, S.

BUJÁN RIVAS, S.

DISTEFANO, L.

ROBLES MARHUENDA, Á.

FERNÁNDEZ MARTÍN, J.

GONZALEZ GARCÍA, A.

GACÍA APARICIO, Á.

ORTEGO CENTENO, N.

LLORENÇ, V.

SAINZ DE LA MAZA, M.

PINEDO, C.

SOPEÑA, B.

COCHO, L.

CARREÑO, E.

PÉREZ QUINTANA, M.

MARQUES SOARES, J. R.

ARTARAZ, J.

RUIZ ARRUZA, I.

SOTO PELETEIRO, A.

GÓMEZ CAVERZASCHI, V.

ARAÚJO, O.

ESPINOSA, G.

ADAN, A.

FABIANI, C.

CANTARINI, L.

HERNÁNDEZ RODRIGUEZ, J.