Late Onset Blau Syndrome Masquerading as Sympathetic Ophthalmia.

Author: Abdullah M Khan (Saudi Arabia)

Co-authors: Moustafa Magliyah, Patrik Schatz, Hassan AlDhibi

Purpose

To report a case of late onset Blau Syndrome that presented as sympathetic ophthalmia.

Setting/Venue

Tertiary care ophthalmology center in the Middle East

Methods

A retrospective chart review of a 10 years old boy who presented with a rhegmatogenous retinal detachment following congenital cataract surgery and later developed persistent panuveitis.

Results

The patient presented 3 weeks after retinal repair with bilateral granulomatous panuveitis. The impression was sympathetic ophthalmia and he was treated with systemic steroids and oral methotrexate. On subsequent follow-up, he developed an aggressive recurrence of multifocal choroiditis associated with skin lesions and joint pain. Genetic testing revealed a heterozygous intronic c.2798+158C>T mutation in NOD2/CARD15 gene. After the addition of systemic adalimumab, a better control of panuveitis was achieved.

Conlusions

The c.2798+158C>T mutation in NOD2/CARD15 is associated with a late-onset Blau syndrome which has masqueraded sympathetic ophthalmia in our patient. Differentiation between the two entities has important prognostic and management considerations.

Financial Disclosure

none

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