Congenital simple hamartoma of the retinal pigment epithelium with a full-thickness macular hole.

BACKGROUND: Congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) is a rare tumor that, to our knowledge, has not been previously reported as being associated with a full-thickness macular hole.

METHODS: We report a case of a CSHRPE associated with a full-thickness macular hole. Findings of funduscopy and optical coherence tomography are described.

RESULTS: A 10-year-old boy presented with visual acuity of 20/80 in the right eye. Funduscopy revealed a juxtafoveal pedunculated, well-circumscribed, darkly pigmented lesion measuring one third of a disk diameter. There was an associated full-thickness macular hole that separated the main dark mass nasally from a linear pigmented lesion. Optical coherence tomography showed a mass with optical shadowing and confirmed the presence of a full-thickness macular hole surrounded by intraretinal cystic edema. No evidence of a posterior vitreous detachment or significant epiretinal membrane was seen.

CONCLUSION: We observed a full-thickness macular hole with a CSHRPE in a 10-year-old boy. The CSHRPE may have induced tangential traction along the posterior hyaloid or abnormal anteroposterior traction with foveal dehiscence. It is possible that exudation from the lesion into the vitreous cavity may result in vitreous changes with premature liquefaction and degenerative alterations that may induce abnormal vitreous adhesion and traction. Optical coherence tomography did not show evidence of such changes.