Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation

Klin Padiatr. 2015 Sep;227(5):296-8. doi: 10.1055/s-0035-1555921. Epub 2015 Aug 10.

Authors

M Michel¹, G Blatsios², S Scholl-Bürgi¹, A Entenmann¹, A Wernstedt³, A Zschocke¹, K Pichler¹, A Höller¹, D Karall¹

Affiliations

¹ Department for Pediatrics, Pediatrics I, Medical University Innsbruck, Innsbruck, Austria.
² Deparment for Ophthalmology, Medical University Innsbruck, Innsbruck, Germany.
³ Department for Clinical Genetics, Medical University Innsbruck, Innsbruck, Austria.

PMID: 26259030
DOI: 10.1055/s-0035-1555921

No abstract available

Publication types

Case Reports

MeSH terms

Adolescent
Chromosomes, Human, Pair 10 / genetics
Consanguinity
DNA Mutational Analysis*
Exons
Fluorescein Angiography
Gyrate Atrophy / blood
Gyrate Atrophy / diagnosis
Gyrate Atrophy / genetics*
Humans
Male
Ornithine / blood
Phenotype
Tomography, Optical Coherence

Substances

Ornithine