Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series

Inge L Sarens; Ingele Casteels; Jordi Anton; Brigitte Bader-Meunier; Philippe Brissaud; Gaelle Chédeville; Rolando Cimaz; Andrew D Dick; Graciella Espada; Jorge Fernandez-Martin; Catherine M Guly; Eric Hachulla; Miroslav Harjacek; Raju Khubchandani; Friederike Mackensen; Rosa Merino; Consuelo Modesto; Antonio Naranjo; Sheila Oliveira-Knupp; Seza Özen; Christine Pajot; Athimalaipet V Ramanan; Ricardo Russo; Gordana Susic; Akaluck Thatayatikom; Caroline Thomée; Sebastiaan Vastert; John Bertin; Juan I Arostegui; Carlos D Rose; Carine H Wouters

doi:10.1016/j.ajo.2017.08.017

Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series

Inge L Sarens, Ingele Casteels, Jordi Anton, Brigitte Bader-Meunier, Philippe Brissaud, Gaelle Chédeville, Rolando Cimaz, Andrew D Dick, Graciella Espada, Jorge Fernandez-Martin, Catherine M Guly, Eric Hachulla, Miroslav Harjacek, Raju Khubchandani, Friederike Mackensen, Rosa Merino, Consuelo Modesto, Antonio Naranjo, Sheila Oliveira-Knupp, Seza ÖzenChristine Pajot, Athimalaipet V Ramanan, Ricardo Russo, Gordana Susic, Akaluck Thatayatikom, Caroline Thomée, Sebastiaan Vastert, John Bertin, Juan I Arostegui, Carlos D Rose, Carine H Wouters

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Abstract

PURPOSE: Provide baseline and preliminary follow-up results in a 5-year longitudinal study of Blau syndrome.

DESIGN: Multicenter, prospective interventional case series.

METHODS: Baseline data from 50 patients from 25 centers worldwide, and follow-up data for patients followed 1, 2, or 3 years at the end of study enrollment. Ophthalmic data were collected at baseline and yearly visits by means of a standardized collection form.

RESULTS: Median age at onset of eye disease was 60 months and duration of eye disease at baseline 145 months. At baseline 38 patients (78%) had uveitis, which was bilateral in 37 (97%). Eight patients (21%) had moderate to severe visual impairment. Panuveitis was found in 38 eyes (51%), with characteristic multifocal choroidal infiltrates in 29 eyes (39%). Optic disc pallor in 9 eyes (12%) and peripapillary nodules in 9 eyes (12%) were the commonest signs of optic nerve involvement. Active anterior chamber inflammation was noted in 30 eyes (40%) at baseline and in 16 (34%), 17 (57%), and 11 (61%) eyes at 1, 2, and 3 years, respectively. Panuveitis was associated with longer disease duration. At baseline, 56 eyes (75%) were on topical corticosteroids. Twenty-six patients (68%) received a combination of systemic corticosteroids and immunomodulatory therapy.

CONCLUSIONS: Blau uveitis is characterized by progressive panuveitis with multifocal choroiditis, resulting in severe ocular morbidity despite continuous systemic and local immunomodulatory therapy. The frequency and severity of Blau uveitis highlight the need for close ophthalmologic surveillance as well as a search for more effective therapies.

Original language	English
Journal	American Journal of Ophthalmology
Early online date	6 Sep 2017
DOIs	https://doi.org/10.1016/j.ajo.2017.08.017
Publication status	E-pub ahead of print - 6 Sep 2017

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Sarens, I. L., Casteels, I., Anton, J., Bader-Meunier, B., Brissaud, P., Chédeville, G., Cimaz, R., Dick, A. D., Espada, G., Fernandez-Martin, J., Guly, C. M., Hachulla, E., Harjacek, M., Khubchandani, R., Mackensen, F., Merino, R., Modesto, C., Naranjo, A., Oliveira-Knupp, S., ... Wouters, C. H. (2017). Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series. American Journal of Ophthalmology. https://doi.org/10.1016/j.ajo.2017.08.017

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title = "Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series",

abstract = "PURPOSE: Provide baseline and preliminary follow-up results in a 5-year longitudinal study of Blau syndrome.DESIGN: Multicenter, prospective interventional case series.METHODS: Baseline data from 50 patients from 25 centers worldwide, and follow-up data for patients followed 1, 2, or 3 years at the end of study enrollment. Ophthalmic data were collected at baseline and yearly visits by means of a standardized collection form.RESULTS: Median age at onset of eye disease was 60 months and duration of eye disease at baseline 145 months. At baseline 38 patients (78%) had uveitis, which was bilateral in 37 (97%). Eight patients (21%) had moderate to severe visual impairment. Panuveitis was found in 38 eyes (51%), with characteristic multifocal choroidal infiltrates in 29 eyes (39%). Optic disc pallor in 9 eyes (12%) and peripapillary nodules in 9 eyes (12%) were the commonest signs of optic nerve involvement. Active anterior chamber inflammation was noted in 30 eyes (40%) at baseline and in 16 (34%), 17 (57%), and 11 (61%) eyes at 1, 2, and 3 years, respectively. Panuveitis was associated with longer disease duration. At baseline, 56 eyes (75%) were on topical corticosteroids. Twenty-six patients (68%) received a combination of systemic corticosteroids and immunomodulatory therapy.CONCLUSIONS: Blau uveitis is characterized by progressive panuveitis with multifocal choroiditis, resulting in severe ocular morbidity despite continuous systemic and local immunomodulatory therapy. The frequency and severity of Blau uveitis highlight the need for close ophthalmologic surveillance as well as a search for more effective therapies.",

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author = "Sarens, {Inge L} and Ingele Casteels and Jordi Anton and Brigitte Bader-Meunier and Philippe Brissaud and Gaelle Ch{\'e}deville and Rolando Cimaz and Dick, {Andrew D} and Graciella Espada and Jorge Fernandez-Martin and Guly, {Catherine M} and Eric Hachulla and Miroslav Harjacek and Raju Khubchandani and Friederike Mackensen and Rosa Merino and Consuelo Modesto and Antonio Naranjo and Sheila Oliveira-Knupp and Seza {\"O}zen and Christine Pajot and Ramanan, {Athimalaipet V} and Ricardo Russo and Gordana Susic and Akaluck Thatayatikom and Caroline Thom{\'e}e and Sebastiaan Vastert and John Bertin and Arostegui, {Juan I} and Rose, {Carlos D} and Wouters, {Carine H}",

year = "2017",

month = sep,

day = "6",

doi = "10.1016/j.ajo.2017.08.017",

language = "English",

journal = "American Journal of Ophthalmology",

issn = "0002-9394",

publisher = "Elsevier Science",

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Sarens, IL, Casteels, I, Anton, J, Bader-Meunier, B, Brissaud, P, Chédeville, G, Cimaz, R, Dick, AD, Espada, G, Fernandez-Martin, J, Guly, CM, Hachulla, E, Harjacek, M, Khubchandani, R, Mackensen, F, Merino, R, Modesto, C, Naranjo, A, Oliveira-Knupp, S, Özen, S, Pajot, C, Ramanan, AV, Russo, R, Susic, G, Thatayatikom, A, Thomée, C, Vastert, S, Bertin, J, Arostegui, JI, Rose, CD & Wouters, CH 2017, 'Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series', American Journal of Ophthalmology. https://doi.org/10.1016/j.ajo.2017.08.017

TY - JOUR

T1 - Blau Syndrome-Associated Uveitis

T2 - Preliminary Results From an International Prospective Interventional Case Series

AU - Sarens, Inge L

AU - Casteels, Ingele

AU - Anton, Jordi

AU - Bader-Meunier, Brigitte

AU - Brissaud, Philippe

AU - Chédeville, Gaelle

AU - Cimaz, Rolando

AU - Dick, Andrew D

AU - Espada, Graciella

AU - Fernandez-Martin, Jorge

AU - Guly, Catherine M

AU - Hachulla, Eric

AU - Harjacek, Miroslav

AU - Khubchandani, Raju

AU - Mackensen, Friederike

AU - Merino, Rosa

AU - Modesto, Consuelo

AU - Naranjo, Antonio

AU - Oliveira-Knupp, Sheila

AU - Özen, Seza

AU - Pajot, Christine

AU - Ramanan, Athimalaipet V

AU - Russo, Ricardo

AU - Susic, Gordana

AU - Thatayatikom, Akaluck

AU - Thomée, Caroline

AU - Vastert, Sebastiaan

AU - Bertin, John

AU - Arostegui, Juan I

AU - Rose, Carlos D

AU - Wouters, Carine H

PY - 2017/9/6

Y1 - 2017/9/6

N2 - PURPOSE: Provide baseline and preliminary follow-up results in a 5-year longitudinal study of Blau syndrome.DESIGN: Multicenter, prospective interventional case series.METHODS: Baseline data from 50 patients from 25 centers worldwide, and follow-up data for patients followed 1, 2, or 3 years at the end of study enrollment. Ophthalmic data were collected at baseline and yearly visits by means of a standardized collection form.RESULTS: Median age at onset of eye disease was 60 months and duration of eye disease at baseline 145 months. At baseline 38 patients (78%) had uveitis, which was bilateral in 37 (97%). Eight patients (21%) had moderate to severe visual impairment. Panuveitis was found in 38 eyes (51%), with characteristic multifocal choroidal infiltrates in 29 eyes (39%). Optic disc pallor in 9 eyes (12%) and peripapillary nodules in 9 eyes (12%) were the commonest signs of optic nerve involvement. Active anterior chamber inflammation was noted in 30 eyes (40%) at baseline and in 16 (34%), 17 (57%), and 11 (61%) eyes at 1, 2, and 3 years, respectively. Panuveitis was associated with longer disease duration. At baseline, 56 eyes (75%) were on topical corticosteroids. Twenty-six patients (68%) received a combination of systemic corticosteroids and immunomodulatory therapy.CONCLUSIONS: Blau uveitis is characterized by progressive panuveitis with multifocal choroiditis, resulting in severe ocular morbidity despite continuous systemic and local immunomodulatory therapy. The frequency and severity of Blau uveitis highlight the need for close ophthalmologic surveillance as well as a search for more effective therapies.

AB - PURPOSE: Provide baseline and preliminary follow-up results in a 5-year longitudinal study of Blau syndrome.DESIGN: Multicenter, prospective interventional case series.METHODS: Baseline data from 50 patients from 25 centers worldwide, and follow-up data for patients followed 1, 2, or 3 years at the end of study enrollment. Ophthalmic data were collected at baseline and yearly visits by means of a standardized collection form.RESULTS: Median age at onset of eye disease was 60 months and duration of eye disease at baseline 145 months. At baseline 38 patients (78%) had uveitis, which was bilateral in 37 (97%). Eight patients (21%) had moderate to severe visual impairment. Panuveitis was found in 38 eyes (51%), with characteristic multifocal choroidal infiltrates in 29 eyes (39%). Optic disc pallor in 9 eyes (12%) and peripapillary nodules in 9 eyes (12%) were the commonest signs of optic nerve involvement. Active anterior chamber inflammation was noted in 30 eyes (40%) at baseline and in 16 (34%), 17 (57%), and 11 (61%) eyes at 1, 2, and 3 years, respectively. Panuveitis was associated with longer disease duration. At baseline, 56 eyes (75%) were on topical corticosteroids. Twenty-six patients (68%) received a combination of systemic corticosteroids and immunomodulatory therapy.CONCLUSIONS: Blau uveitis is characterized by progressive panuveitis with multifocal choroiditis, resulting in severe ocular morbidity despite continuous systemic and local immunomodulatory therapy. The frequency and severity of Blau uveitis highlight the need for close ophthalmologic surveillance as well as a search for more effective therapies.

KW - Journal Article

U2 - 10.1016/j.ajo.2017.08.017

DO - 10.1016/j.ajo.2017.08.017

M3 - Article (Academic Journal)

C2 - 28887115

JO - American Journal of Ophthalmology

JF - American Journal of Ophthalmology

SN - 0002-9394

ER -

Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series

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