New ophthalmic features in a family with triple A syndrome.

[triple a syndrome]

We report three subjects of a Greek family affected by triple A syndrome (AAAS ). All patients underwent complete ophthalmic examination , full-field electroretinogram (ERG ), visual evoked responses (VER ), optical coherence tomography (OCT ) and molecular analysis of the AAA gene . All patients had alacrima . In two of them , the proband and her brother , bilateral optic atrophy was assessed and the VER were pathological . In contrast , the ERG was normal . OCT showed a decrease of the retinal nerve fiber layer . The third case had only alacrima and the optic nerves were normal . The molecular genetic study of the AAAS gene revealed a homozygous missense mutation p .Ala 167 Val . To our knowledge this is the first time a family with AAAS has been investigated using OCT , VER and ERG . Our findings illustrate that the retina is not involved . There is also an interfamilial variability concerning the involvement of the optic nerves .