Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene

Klin Monbl Augenheilkd. 2016 Apr;233(4):475-7. doi: 10.1055/s-0042-102585. Epub 2016 Apr 26.

Authors

H V Tran¹, E Moret², V Vaclavik¹, F Marcelli², M M Abitbol³, F L Munier¹, D F Schorderet¹

Affiliations

¹ Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland.
² IRO-Institute for Research in Ophthalmology, Sion, Switzerland.
³ Department of Ophthalmology of Necker-Enfants-Malades, University Hospital, Paris Descartes University, Paris, France.

PMID: 27116512
DOI: 10.1055/s-0042-102585

No abstract available

Publication types

Case Reports

MeSH terms

Diagnosis, Differential
Eye Proteins / genetics*
Female
Genes, Dominant
Genetic Markers / genetics
Genetic Predisposition to Disease / genetics*
Humans
Macular Degeneration / congenital*
Macular Degeneration / diagnosis
Macular Degeneration / genetics
Macular Degeneration / pathology
Male
Membrane Proteins / genetics*
Mutation / genetics*
Stargardt Disease
Switzerland
Young Adult

Substances

ELOVL4 protein, human
Eye Proteins
Genetic Markers
Membrane Proteins