Síndrome del microftalmos posterior-drusas papilares-retinosis pigmentaria asociado a puntos blancosCaso clínico

Zusammenfassung

Objective. To present the case of a patient with a posterior microphthalmos-optic disc drusen-retinitis pigmentosa syndrome associated, for the first time, with white dots in the posterior pole. Methodology. The posterior microphthalmos, retinitis pigmentosa and optic disc drusen syndrome was described for the first time in literature in 1991. Later, it was associated with a pattern of foveal thickening and/or foveoschisis. Different forms of mutations on chromosomes 11 and 14 have been identified as being responsible for the appearance of this syndrome, but the inheritance pattern is unknown. Discussion. The case is reported of a 37 year-old man, with no personal or family history of interest, diagnosed with this syndrome in association with white dots in the posterior pole. Such a morphological association has never been published before in literature. Conclusion. The posterior microphthalmos, retinitis pigmentosa and optic disc drusen syndrome is a very rare entity, and has never been described associated with white dots in the posterior pole. More case reports are needed to establish clear patterns of both the disease and inheritance.