Clinical Findings and Molecular Genetics of <i>USH1C</i> -Associated Usher Syndrome
Results of this case series study suggest that USH1C-associated retinopathy was characterized by slow decline of visual acuity and modest ellipsoid zone loss over decades. Depression and unemployment were also observed, with implications for prognosis and counseling. Early onset and slow progression highlight its potential as a target for emerging therapies.
Authors
- Vanita Berry (ORCID: https://orcid.org/0000-0001-6008-8970)
- Angelos Kalitzeos
- Sum‐Ping Leung
- Shibu Sasidharan (ORCID: https://orcid.org/0000-0003-2991-7595)
- Natalie James (ORCID: https://orcid.org/0000-0001-6290-5110)
- Thales A. C. de Guimarães (ORCID: https://orcid.org/0000-0002-7936-6851)
- Folahan Adesola Ibukun
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Nancy Aychoua (ORCID: https://orcid.org/0000-0002-9514-559X)
- Michel Michaelides (ORCID: https://orcid.org/0000-0002-1552-7046)
- Andrew R. Webster (ORCID: https://orcid.org/0000-0001-6915-9560)
- Manav B. Ponnekanti (ORCID: https://orcid.org/0009-0001-9545-7489)
Institutions
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- Johns Hopkins University (US)
- Johns Hopkins Medicine (US)
- Moorfields Eye Hospital (GB)
- Johns Hopkins Hospital (US)
- University College London (GB)
Publication Details
- Journal
- JAMA Ophthalmology
- Published
- 2025-12-02
- DOI
- https://doi.org/10.1001/jamaophthalmol.2025.4813
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00