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Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study

Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_09ff4da96e67460f9ade801828ee55b8

Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study

About this item

Full title

Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study

Publisher

England: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2024-10, Vol.19 (1), p.385-11, Article 385

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Myopia-26, a Mendelian form of early-onset high-myopia (eoHM) caused by mutations in the X-chromosomal ARR3 gene and predominantly affecting females, curiously, may provide an alternative route of investigation to unveil retinal mechanisms underlying pathological eye growth. We conducted a case-control cross-sectional prospective electrophysiologic...

Alternative Titles

Full title

Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_09ff4da96e67460f9ade801828ee55b8

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_09ff4da96e67460f9ade801828ee55b8

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-024-03390-9

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