Clinical Profile in Genetically Proven Blau Syndrome: A Case Series from South India.
Ocul Immunol Inflamm
; 29(2): 250-256, 2021 Feb 17.
Article
en En
| MEDLINE
| ID: mdl-32293936
ABSTRACT
Purpose:
To report the clinical profile of genetically proven Blau syndrome in seven cases from a single center in South India.Materials &Methods:
Retrospective case seriesResults:
There were four females and three males. All cases had a history of skin and joint involvement of varying severity. Flexion contractures of the proximal interphalangeal joints were seen in all cases except Case 2. Ocular involvement was bilateral and included keratoconjunctivitis sicca (six cases), granulomatous panuveitis (three cases), granulomatous anterior uveitis (three cases), conjunctival granulomas (three cases), subepithelial corneal opacities (one case), and subretinal granuloma (one case). Other ocular findings included band-shaped keratopathy (five cases) and cataract (three cases). All cases received oral steroids and methotrexate with an addition of mycophenolate mofetil in one case. Visual prognosis was good in all cases.Conclusions:
Blau syndrome is underreported in India. This is the largest case series of genetically proven Blau syndrome from South India and highlights the clinical profile of Blau syndrome seen in India.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Artritis
/
Sarcoidosis
/
Sinovitis
/
Uveítis
/
Agudeza Visual
/
Queratoconjuntivitis Seca
/
Conjuntiva
/
Córnea
/
Proteína Adaptadora de Señalización NOD2
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Ocul Immunol Inflamm
Asunto de la revista:
ALERGIA E IMUNOLOGIA
/
OFTALMOLOGIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
India