Fundus autofluorescence in cone dystrophy

Abstract

Purpose: To describe fundus autofluorescence (FAF) finding in a case of cone dystrophy.

Methods: Interventional case report.

Results: A 23-year-old woman presented with increasing photophobia and decreasing vision in both eyes for 2 years. Fundus examination showed several drusen-like dots. FAF revealed hyper-autofluorescence in the foveola. Electroretinogram (ERG) demonstrated a pure "cone" dystrophy.

Conclusion: Hyper-autofluorescence in the foveola is a non-specific manifestation of photoreceptor-retinal pigment epithelium dysfunction. ERG studies are essential for accurate diagnosis.

Fig. 1

Fundus photography (a right eye, b left eye) revealed some small drusen-like dots around the foveal region

Fig. 2

Fundus autofluorescence imaging (a right eye, b left eye) demonstrated increased autofluorescence ring and central spots in the foveola

Fig. 3

Optical coherent tomography (a right eye, b left eye) showed segmentation of photoreceptor inner segment/outer segment junction between the two arrows in the fovea and no cystic changes

Fig. 4

Electroretinogram revealed nearly no detectable cone responses and normal rod responses in both eyes. Black line represents the average of all tracings, and red line denotes values of a single trace