RETINAL DYSTROPHY AS AN UNUSUAL MANIFESTATION OF TRICHOTHIODYSTROPHY

Describe a case of retinal dystrophy as an ophthalmologic manifestation of trichothiodystrophy in a young patient.

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.

Genetic testing confirmed the diagnosis of trichothiodystrophy, and retinal dystrophy was considered a rare manifestation of the systemic disease.

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.