Fundus autofluorescence in a case of occult macular dystrophy

To document for the first time intrinsic retinal pigment epithelium (RPE) fluorescence in occult macular dystrophy (OMD). This entity is characterized by a central cone dysfunction leading to a decline of visual acuity without visible fundus and fluorescein angiography abnormalities. A great variability in clinical findings and in the pattern of inheritance have been reported suggesting probably several etiologies of which some are well known but seen too early to detect significant changes.

Fundus autofluorescence imaging is a recent method to detect early retinal pigment epithelial alterations. It may visualise disease specific abnormalities in the retinal pigment epithelium often not yet visible on ophthalmoscopy such as Stargardt disease, rod-cone dystrophy. This method was applied in a member of a family with OMD.

The normal fundus autofluorescence observed in our patient allowed the distinction between well-known maculopathies not yet visible on ophthalmoscopy but showing abnormal autofluorescence, and genuine occult macular dystrophy.

Fundus autofluorescence imaging in our case of dominant autosomal OMD suggests a healthy and functional RPE. This examination of RPE should therefore be added to the work-up of suspected OMD.