Mutation of the Thyroid Hormone Receptor Beta Gene (THRB) Causes Vitelliform Macular Dystrophy with High Intrafamilial Variability
This report shows a high intrafamilial variability of macular dystrophy caused by a heterozygous <i>THRB</i> mutation, which has only recently been recognized as a cause of macular dystrophy. Here, we describe a novel clinical presentation characterized by a vitelliform lesion, expanding the phenotypic spectrum of <i>THRB</i>-associated macular dystrophy.
Authors
- Lars C. Moeller (ORCID: https://orcid.org/0000-0002-9330-9036)
- Frank Gerhard Holz (ORCID: https://orcid.org/0000-0001-8019-9272)
- Elisa A. Mahler
- Katharina Wall (ORCID: https://orcid.org/0000-0003-3420-0054)
- Marlene Saßmannshausen (ORCID: https://orcid.org/0000-0001-5265-4645)
- Hanno J. Bolz (ORCID: https://orcid.org/0000-0001-9317-0022)
- Bettina Kron
- Philipp Herrmann
Institutions
- Hôpital Necker-Enfants Malades (FR)
- Université Paris Cité (FR)
- University Hospital Bonn (DE)
- Assistance Publique – Hôpitaux de Paris (FR)
- Essen University Hospital (DE)
Publication Details
- Journal
- Genes
- Published
- 2025-10-20
- DOI
- https://doi.org/10.3390/genes16101240
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00