Clinical Profile in Genetically Proven Blau Syndrome: A Case Series from South India

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 series

Results: 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.

KEYWORDS:

• Blau syndrome
• granulomatous uveitis
• pediatric
• South India
• subepithelial opacities

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.

Additional information

Funding

The authors have no financial interest in the study.