Expanding the mutational and phenotypical spectrum of FHONDA syndrome.

Genetics < GENETICS macular and RPE dystrophies < RETINA molecular < GENETICS retinitis pigmentosa < RETINA rod-cone dystrophies (Retinitis pigmentosa) < RETINA

Journal

European journal of ophthalmology
ISSN: 1724-6016
Titre abrégé: Eur J Ophthalmol
Pays: United States
ID NLM: 9110772

Informations de publication

Date de publication:
13 Sep 2024
Historique:
medline: 14 9 2024
pubmed: 14 9 2024
entrez: 14 9 2024
Statut: aheadofprint

Résumé

Foveal hypoplasia, optic nerve decussation, and anterior segment dysgenesis (FHONDA) is a rare recessively inherited syndrome first described in 2013. FHONDA is associated with biallelic disease-causing variants in the

Identifiants

DOI: 10.1177/11206721241284072 PMID: 39275842
pubmed: 39275842
doi: 10.1177/11206721241284072
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

11206721241284072

Déclaration de conflit d'intérêts

Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Auteurs

Bruno Magalhães Teixeira (BM)

Ophthalmology Unit, Unidade Local de Saúde (ULS) de Coimbra, Coimbra, Portugal.
ORCID: 0000-0002-8361-183X

Inês Figueiredo (I)

Ophthalmology Unit, Unidade Local de Saúde (ULS) de Coimbra, Coimbra, Portugal.

Miguel Raimundo (M)

Ophthalmology Unit, Unidade Local de Saúde (ULS) de Coimbra, Coimbra, Portugal.
University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.
Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.

Hugo Quental (H)

Institute of Nuclear Sciences Applied to Health (ICNAS), Coimbra, Portugal.
Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Coimbra, Portugal.

Ana Luísa Carvalho (AL)

Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
Medical Genetics Unit, Unidade Local de Saúde (ULS) de Coimbra, Coimbra, Portugal.
University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.

Rufino Silva (R)

Ophthalmology Unit, Unidade Local de Saúde (ULS) de Coimbra, Coimbra, Portugal.
University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.
Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.

Joaquim Murta (J)

Ophthalmology Unit, Unidade Local de Saúde (ULS) de Coimbra, Coimbra, Portugal.
University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.
Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.

João Pedro Marques (JP)

Ophthalmology Unit, Unidade Local de Saúde (ULS) de Coimbra, Coimbra, Portugal.
University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.
Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
ORCID: 0000-0002-1014-0483

Classifications MeSH