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TitleBlindness due to uveits associated with Wiskott-Aldrich syndrome
Accept poster if oral is not possible ?Yes
PurposeTo present a case of Wiskott-Aldrich syndrome debuting with blindness due to severe bilateral anterior uveitis in a 12-year-old boy.
ResultsWiskott–Aldrich syndrome is an X-linked primary immunodeficiency disorder, characterized by a triad of severe immunodeficiency, microthrombocytopenia, and eczema. It is known to produce vasculitis(13%), renal disease(12%). However, uveitis has not prior to this been described as part of the autoimmune manifestation.
A 12-year-old boy initially treated through one month for sinusitis after a case of gastritis. He debuted with sudden stomach ache, malaise and discrete bilateral anterior uveitis. The next morning, he woke with no vision in both eyes. He was referred to our uveitis clinic where he was found to have a visual acuity of light perception with projection. Slit lamp examination revealed dense bilateral blood tinged anterior uveitis, dilated conjunctival and scleral vessels and paralimbal Trantas dot like nodules. Ultrasound B-scan revealed a quiet posterior segment.
Treatment was administered with 1000mg Methylprednisolone daily for 3 days tampering to 100mg prednisolone. After 3 days visual acuity was 0,8 on the right eye and still light perception with projection on the left. A condensed plaque was observed in the iridocorneal angle on the right eye, while still covering the left lens entirely. 20 days later eyesight on both eyes was fully recovered, with only trace reaction. Gene analyses for Wiskott–Aldrich syndrome revealed a hemizygote mutation.
The boy developed acute kidney failure shortly after. Treatment consisted of plasmapheresis, cyclophosphamide and rituximab, a long with immunoglobulins. Treatment is still ongoing.
Conflict of interestNo
Author 1
Last nameCLEMMENSEN
Initials of first name(s)K
DepartmentOphthalmology
CityAarhus
CountryDenmark