Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants

Approved

Classifications

MinEdu publication type
A1 Journal article (peer-reviewed)
Definition
Article
Target group
Scientific
Peer reviewed
Peer-reviewed
Article type
Journal article
Host publication type
Journal

Publication channel information

Title of journal/series
British journal of ophthalmology
ISSN (print)
0007-1161
ISSN (electronic)
1468-2079
ISSN (linking)
0007-1161
Publisher
British Medical Association
Publication forum ID
52702
Publication forum level
3
Country of publication
United Kingdom
Internationality
Yes

Detailed publication information

Publication year
2025
Reporting year
2025
Journal/series volume number
109
Page numbers
852-857
DOI
10.1136/bjo-2025-327427
Language of publication
English

Co-publication information

International co-publication
No
Co-publication with a company
No

Availability

Link to online publication
Link to self-archived version

Classification and additional information

MinEdu field of science classification
3125 Otorhinolaryngology, ophthalmology
Keywords
Diagnostic tests/Investigation; Dystrophy; Epidemiology; Genetics; Retina
Additional information
[Epub ahead of print 26 Jun 2025]

Funding information

Funding information in the publication
This study was funded by the Academy of Finland (grant number 338446), the Competitive State Research Financing of the Expert Responsibility area of Oulu University Hospital (grant numbers K36733, K71772), the Finnish Cultural Foundation (grant number 00230767), the Finnish Medical Foundation (grant numbers 4967 and 6880) and the Terttu Foundation (grant number T36101).

Research data information

Research data information in the publication
All data relevant to the study are included in the article or uploaded as supplementary information. The participants of this study did not give written consent for their data to be shared publicly, so due to the sensitive nature of the research supporting data is not available.

Source database ID

WoS ID
WOS:001520561600001
Scopus ID
2-s2.0-105009751623
Other database ID
PMID: 40571344