Abstract
Purpose::
Adult vitelliform macular dystrophy (AVMD) is a relatively rare dystrophy, usually inherited as an autosomal dominant trait. It is characterized by the presence of a solitary, one-third to one disc diameter-size, round or oval, slightly elevated, yellow, subretinal lesion at the fovea, often with a central pigmented spot. In spite of the characteristic ophthalmoscopic features the disease is often misdiagnosed.The recording of fundus autofluorescence (FAF) has been introduced in the last decade as a technique of retinal imaging. FAF is generally considered to derive from the lipofuscin in retinal pigment epithelium (RPE) cells, allowing, thus, RPE changes to be documented clinically. The aim of the present study is to report the FAF imaging findings in AVMD.
Methods::
Two unrelated patients (male, 42-year-old; female, 54-year-old) with AVMD were referred to our department. They underwent a complete ophthalmologic examination, including fluorescein angiography. The diagnosis of AVMD was based on the characteristic clinical and angiographic picture. FAF imaging was recorded by means of a confocal scanning laser ophthalmoscope (HRA 2, Heidelberg Engineering, Germany). The findings of FAF imaging were correlated to those of funduscopy and fluorescein angiography.
Results::
The characteristic solitary, round, slightly elevated, yellow, subretinal lesion at the fovea was present in both patients, bilaterally. In FAF imaging the area of the lesion was recorded as an area of a highly intense signal, corresponding to the yellowish lesion seen in biomicroscopy.
Conclusions::
The characteristic ophthalmoscopic lesion of AVMD is recorded in FAF imaging as an equally characteristic area of intense signal. This finding is useful in the facilitation of the correct diagnosis of a disease, which is often misdiagnosed. In addition, it provides information for the understaning of the histopathology of AVMD. Given that the signal of FAF is mainly derived from the lipofuscin in RPE cells, the results of FAF imaging are supportive of the view that the material accumulated in the foveal lesion in AVMD is composed of lipofuscin.
Keywords: imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • imaging/image analysis: clinical • macula/fovea