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10.1007_s10792-011-9450-z

10.1007_s10792-011-9450-z

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International Ophthalmology
The International Journal ofClinical Ophthalmology andVisual Sciences ISSN 0165-5701Volume 31Number 3 Int Ophthalmol (2011)31:239-243DOI 10.1007/s10792-011-9450-z
 New ophthalmic features in a family withtriple A syndrome Marilita M. Moschos, Ioannis Margetis,Katrin Koehler, Zisis Gatzioufas & Angela Huebner 
 
 1 23
Your article is protected by copyright andall rights are held exclusively by SpringerScience+Business Media B.V.. This e-offprintis for personal use only and shall not be self-archived in electronic repositories. If youwish to self-archive your work, please use theaccepted author’s version for posting to yourown website or your institution’s repository.You may further deposit the accepted author’sversion on a funder’s repository at a funder’srequest, provided it is not made publiclyavailable until 12 months after publication.
 
CASE REPORT
New ophthalmic features in a family with triple A syndrome
Marilita M. Moschos
Ioannis Margetis
Katrin Koehler
Zisis Gatzioufas
Angela Huebner
Received: 30 November 2010/Accepted: 16 May 2011/Published online: 28 May 2011
Ó
Springer Science+Business Media B.V. 2011
Abstract
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
AAA
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
AAAS 
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.
Keywords
Triple A syndrome
Á
ALADIN
Á
Electroretinogram
Á
Visual evoked responses
Á
Optical coherence tomography
Introduction
Triple A syndrome (AAAS) is a rare autosomalrecessive disorder characterized by alacrima, achala-sia and adrenal insufficiency (ALADIN) [13]. This syndrome, also known as Allgrove syndrome, iscaused by mutations in the
AAAS 
gene. Additionalfeatures include consecutive keratoconjunctivitis,pupillary abnormalities, sluggish pupillary reflexesand optic atrophy [46]. 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 (
&
)
Á
I. MargetisDepartment of Ophthalmology, University of Athens, 144,Kountouriotou str, 185 35 Piraeus, Greecee-mail: mihmoschos@gmail.comK. Koehler
Á
A. HuebnerChildren’s Hospital, Technical Ophthalmology, Dresden,GermanyZ. GatzioufasDepartment of Ophthalmology, University of SaarlandHospital, Homburg, Germany
 123
Int Ophthalmol (2011) 31:239–243DOI 10.1007/s10792-011-9450-z

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