Retinal dystrophy as an unusual manifestation of trichothiodystrophy

Purpose: Describe a case of retinal dystrophy as an ophthalmological 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: 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.