New ophthalmic features in a family with triple A syndrome

International Ophthalmology

Volumn 31, Issue 3, 2011, Pages 239-243

  Moschos, Marilita M ^a   Margetis, Ioannis ^a   Koehler, Katrin ^b   Gatzioufas, Zisis ^c   Huebner, Angela ^b  

^a UNIVERSITY OF ATHENS   (Greece)

^b Children's Hospital   (Germany)

^c SAARLAND UNIVERSITY   (Germany)

Author keywords

ALADIN; Electroretinogram; Optical coherence tomography; Triple A syndrome; Visual evoked responses

Indexed keywords

HYDROCORTISONE;

AAA GENE; ADOLESCENT; ALLGROVE SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; COLOR VISION DEFECT; ELECTRORETINOGRAM; ESOPHAGUS ACHALASIA; EVOKED VISUAL RESPONSE; FEMALE; GENE; HOMOZYGOSITY; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERREFLEXIA; LACRIMAL POINT APLASIA; LACRIMATION DISORDER; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; OPTIC NERVE ATROPHY; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE ANALYSIS; PRESCHOOL CHILD; RETINAL NERVE FIBER LAYER THICKNESS; SCHIRMER TEST; SCHOOL CHILD; VISUAL ACUITY; VISUAL SYSTEM PARAMETERS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADRENAL INSUFFICIENCY; CHILD; DIAGNOSIS, DIFFERENTIAL; ELECTRORETINOGRAPHY; ESOPHAGEAL ACHALASIA; EVOKED POTENTIALS, VISUAL; FEMALE; GENETIC TESTING; HUMANS; MALE; OPTIC ATROPHIES, HEREDITARY; OPTIC NERVE; PEDIGREE; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 79959724620     PISSN: 01655701     EISSN: 15732630     Source Type: Journal    
DOI: 10.1007/s10792-011-9450-z     Document Type: Article

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