Martinique (West Indies) crinkled retinal pigment epitheliopathy: clinical description

To report a previously undescribed pattern of crinkled retinal pigment epithelium (RPE), observed in a family of black patients originating from Martinique, an island in the French West Indies.

Three generations were examined by visual acuity measurement and fundus photography. Autofluorescence photography, fluorescein and indocyanine green angiography, visual field testing, electrophysiology, and spectral domain optical coherence tomography were performed in certain patients.

One 86-year-old grandmother, her 7 children, her nephew, and 18 of her 22 grandchildren were examined. Nine patients were affected: five children, one nephew, and three grandchildren. An unrelated patient originating from the same area was also affected. In the third generation, fundus findings were whitish deep lines located in the posterior pole. Optical coherence tomography showed a crinkled pattern of a slightly elevated RPE. In the second generation, a scalloped crinkled RPE was observed in the posterior pole and midperiphery, giving an image of dry desert land in fluorescein and indocyanine green angiography. Optical coherence tomography showed that the RPE formed ripples, giving it a crinkled appearance. Complications were observed in six cases: they included RPE atrophy (one case), subretinal and sub-RPE hemorrhages because of polypoidal choroidal vasculopathy (four cases), and fibrovascular scarring (one case). The grandmother's fundi were characterized by peripheral pigmentary changes, with severe visual loss.

The observed pattern appeared different from previously described dystrophies and could be referred to as Martinique crinkled retinal pigment epitheliopathy.