Manifestation of Panuveitis after Intraocular Surgery in a Child with Blau Syndrome.
PMID 35125805 | PMCID PMC8763097 | DOI 10.4103/meajo.meajo_15_21 · Middle East African journal of ophthalmology · 2021 · View on PubMed ↗
Blau syndrome (BS) is a rare granulomatous disease with autosomal dominant inheritance. It is characterized by a triad of dermatitis, arthritis, and recurrent uveitis. This case presents the onset of panuveitis in BS after intraocular surgery. A 10-year-old boy presented to the outpatient clinic with retinal detachment in the left eye after 6 years following early-onset cataract surgery. Bilateral panuveitis occurred 3 weeks after surgical repair and resulted in a total visual loss in the left eye and was persistent to conventional treatment in the right eye. Genetic testing revealed a mutation in NOD2 gene. The addition of adalimumab to the treatment regimen resulted in long-term uveitis control and maintenance of 20/70 vision in the right eye. We propose that NOD2-mediated inflammatory cascade can be activated by intraocular surgery and results in the manifestation of BS.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NOD2 | “Genetic testing revealed a mutation in NOD2 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital cataract | “A 10-year-old boy presented to the outpatient clinic with retinal detachment in the left eye after 6 years following early-onset cataract surgery.” | 0.93 | phenotype_alias_lexicon_v2 |