Retinal cases & brief reports · 2026
RETINAL DYSTROPHY AS AN UNUSUAL MANIFESTATION OF TRICHOTHIODYSTROPHY.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Dourado Fernanda Galante, Omote Daniel Queiroz, Correia de Pinho Paula Dandara, Gianotti Pimentel Sergio Luis
Аннотация
PURPOSE: Describe a case of retinal dystrophy as an ophthalmologic manifestation of trichothiodystrophy in a young patient.
METHODS: Multimodal retinal imaging evaluation was performed, with color fundus photograph, fundus autofluorescence, fluorescein angiography, optical coherence tomography, and electroretinogram. Genetic testing confirmed the systemic diagnosis.
RESULTS: Genetic testing confirmed the diagnosis of trichothiodystrophy, and retinal dystrophy was considered a rare manifestation of the systemic disease.
CONCLUSION: Ophthalmologic 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 trichothiodystrophy but should be considered as a rare ophthalmologic manifestation in this syndromic disease.
METHODS: Multimodal retinal imaging evaluation was performed, with color fundus photograph, fundus autofluorescence, fluorescein angiography, optical coherence tomography, and electroretinogram. Genetic testing confirmed the systemic diagnosis.
RESULTS: Genetic testing confirmed the diagnosis of trichothiodystrophy, and retinal dystrophy was considered a rare manifestation of the systemic disease.
CONCLUSION: Ophthalmologic 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 trichothiodystrophy but should be considered as a rare ophthalmologic manifestation in this syndromic disease.