title: New ophthalmic features in a family with triple A syndrome.
abstract: 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.Ala167Val. 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.
authors.affiliation: Department of Ophthalmology, University of Athens, 144 Kountouriotou str., Piraeus, Greece. mihmoschos@gmail.com
authors.forename: Marilita M
authors.initials: MM
authors.lastname: Moschos
authors.forename: Ioannis
authors.initials: I
authors.lastname: Margetis
authors.forename: Katrin
authors.initials: K
authors.lastname: Koehler
authors.forename: Zisis
authors.initials: Z
authors.lastname: Gatzioufas
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000309:Adrenal Insufficiency / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D003937:Diagnosis, Differential; D004596:Electroretinography; D004931:Esophageal Achalasia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005074:Evoked Potentials, Visual; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009900:Optic Nerve / Q000473:pathology* / Q000503:physiopathology; D010375:Pedigree; D041623:Tomography, Optical Coherence; D014792:Visual Acuity