A 17-year-old female, a known case of Marfan syndrome, presented with complaints of diminution of vision in both the eyes for 10 years. Clinical examination revealed that the presence of lens coloboma with advanced retinitis pigmentosa (RP) in the right eye and left eye showed cataractous changes along with persistent hyperplastic primary vitreous (PHPV) on ultrasonography B scan. This report describes the rare association of RP, lens coloboma, and PHPV in Marfan syndrome.
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Godbole et al. (2024) studied this question.
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