Retinal dystrophy as an unusual manifestation of trichothiodystrophy
Ophthalmological manifestations in Trichothiodystrophy are variable, with cataracts and refractive errors being the most reported although our case had a retinal dystrophy. Retinal degeneration is not typically considered a hallmark of TTD but should be considered as a rare ophthalmological manifestation in this syndromic disease.
Authors
- P. Pinho (ORCID: https://orcid.org/0000-0002-2193-5839)
- Daniel Queiroz Omote
- Sérgio Luís Gianotti Pimentel (ORCID: https://orcid.org/0000-0002-2270-8806)
- Fernanda Simões Dourado (ORCID: https://orcid.org/0000-0003-0888-6849)
Institutions
- Universidade de São Paulo (BR)
Publication Details
- Journal
- Retinal Cases & Brief Reports
- Published
- 2025-04-02
- DOI
- https://doi.org/10.1097/icb.0000000000001756
- Primary Topic
- Selenium in Biological Systems
- Type
- article
- Field-Weighted Citation Impact
- 0.00