Bilateral Panuveitis in an Adolescent with Autoimmune Lymphoproliferative Syndrome Due to CTLA4 Haploinsufficiency.
Ocul Immunol Inflamm
; : 1-5, 2023 Sep 13.
Article
in En
| MEDLINE
| ID: mdl-37703496
ABSTRACT
PURPOSE:
To describe a case of bilateral panuveitis in an 11-year-old girl with autoimmune lymphoproliferative syndrome (ALPS) due to CTLA4 haploinsufficiency. CASE DESCRIPTION A 5-year-old girl developed cervical adenopathy, and autoimmune hemolytic anemia and thrombocytopenia consistent with Evan's Syndrome. She was subsequently diagnosed with autosomal dominant CTLA4 haploinsuffciency and treated with immunosuppressants. Ocular symptoms developed 6 years later when she complained of blurry vision and photophobia. There were 3+ anterior chamber cells and 1+ flare, stellate keratic precipitates, and 3+ vitreous cells in both eyes. On fluorescein angiography, there was staining along the arcades and peripheral perivascular leakage in both eyes. On indocyanine green angiography, there were hypofluorescent spots throughout the posterior pole. The inflammation was partially responsive to topical and oral corticosteroids.CONCLUSION:
Panuveitis may be associated with ALPS due to CTLA4 haploinsufficiency. Retinal and choroidal involvement should be assessed when anterior chamber inflammation is the presenting sign.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Ocul Immunol Inflamm
Journal subject:
ALERGIA E IMUNOLOGIA
/
OFTALMOLOGIA
Year:
2023
Document type:
Article
Affiliation country:
United States
Publication country:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM