New ophthalmic features in a family with triple A syndrome
Marilita M. Moschos
Received: 30 November 2010/Accepted: 16 May 2011/Published online: 28 May 2011
Springer Science+Business Media B.V. 2011
We report three subjects of a Greek familyaffected by triple A syndrome (AAAS). All patientsunderwent complete ophthalmic examination, full-ﬁeld electroretinogram (ERG), visual evokedresponses (VER), optical coherence tomography(OCT) and molecular analysis of the
gene. Allpatients had alacrima. In two of them, the proband andher brother, bilateral optic atrophy was assessed andthe VER were pathological. In contrast, the ERG wasnormal. OCT showed a decrease of the retinal nerveﬁber layer. The third case had only alacrima and theoptic nerves were normal. The molecular geneticstudy of the
gene revealed a homozygousmissense mutation p.Ala167Val. To our knowledgethis is the ﬁrst time a family with AAAS has beeninvestigated using OCT, VER and ERG. Our ﬁndingsillustrate that the retina is not involved. There is alsoan interfamilial variability concerning the involve-ment of the optic nerves.
Triple A syndrome
Visual evoked responses
Optical coherence tomography
Triple A syndrome (AAAS) is a rare autosomalrecessive disorder characterized by alacrima, achala-sia and adrenal insufﬁciency (ALADIN) [1–3]. This
syndrome, also known as Allgrove syndrome, iscaused by mutations in the
gene. Additionalfeatures include consecutive keratoconjunctivitis,pupillary abnormalities, sluggish pupillary reﬂexesand optic atrophy [4–6].
In our three case series, we studied all ophthalmicfeatures of the syndrome in three members of thesame family.
Materials and methods
The patients were examined in the Department of Ophthalmology of the University of Athens. Themolecular genetic studies were performed in the Lab-oratoryforClinicalResearchofthe Children’sHospitalof the Technical University Dresden, Germany.Informed written consent was obtained from all familymembers prior to examination. Electroretinogram
M. M. Moschos (
I. MargetisDepartment of Ophthalmology, University of Athens, 144,Kountouriotou str, 185 35 Piraeus, Greecee-mail: firstname.lastname@example.orgK. Koehler
A. HuebnerChildren’s Hospital, Technical Ophthalmology, Dresden,GermanyZ. GatzioufasDepartment of Ophthalmology, University of SaarlandHospital, Homburg, Germany
Int Ophthalmol (2011) 31:239–243DOI 10.1007/s10792-011-9450-z