Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation

Ophthalmic Genet. 2021 Dec;42(6):784-786. doi: 10.1080/13816810.2021.1970196. Epub 2021 Aug 25.

Authors

Eva S Lachmann¹, Luca Mautone¹, Simon Dulz¹

Affiliation

¹ Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

PMID: 34433355
DOI: 10.1080/13816810.2021.1970196

No abstract available

Publication types

Case Reports

MeSH terms

Child
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Macular Degeneration / diagnosis
Macular Degeneration / genetics*
Macular Degeneration / physiopathology
Male
Membrane Transport Proteins / genetics*
Mutation, Missense / genetics*
Phenotype
Receptors, Virus / genetics*
Spinocerebellar Degenerations / diagnosis
Spinocerebellar Degenerations / genetics
Visual Acuity / physiology

Substances

FLVCR1 protein, human
Membrane Transport Proteins
Receptors, Virus