Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome.

Background: Alagille syndrome (AGS) is an autosomal dominant, multisystem disorder defined by developmental abnormalities of the liver, heart, eye and skeleton. Although visual problems are recognised, the severity of visual loss and its link with idiopathic intracranial hypertension (IIH) has not been reported.

Aim: To review the incidence of visual loss and IIH in children with AGS managed at a National Paediatric Liver Unit between 1989 and 2004.

Subjects And Methods: Retrospective case note review of children who fulfilled criteria for diagnosis of AGS and had an ophthalmic examination by a paediatric ophthalmologist.

Results: Fifty-five children with AGS were evaluated. Of these, 41 children fulfilled diagnostic criteria and had a documented ophthalmic examination. Six children had undergone liver transplantation. Three children had a definite diagnosis of IIH, 2 of whom developed postliver transplant. All 3 were treated medically, but 1 child with IIH required lumboperitoneal shunting. All 3 children with definite IIH have normal vision after treatment. Another child with probable undiagnosed IIH has bilateral optic atrophy and is registered blind. Two children with AGS are registered partially sighted, one with rod cone dystrophy and the other with pigmentary retinopathy and right disc atrophy.

Summary: Although visual abnormalities are well described in children with AGS, a minority of children have significant progressive visual loss. Idiopathic intracranial hypertension has been identified as a potentially treatable precipitating factor.

Conclusions: We recommend annual fundoscopy in the follow-up of children with AGS to facilitate early detection and appropriate management of IIH to prevent visual loss.