Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome

Abstract

The authors describe fundus autofluorescence (AF) and spectral-domain optical coherence tomography (SD-OCT) findings in three patients with enhanced S-cone syndrome and their correlation around the hyperautofluorescent ring border. Patients had AF imaging in combination with SD-OCT line-scans through the fovea, at the posterior pole, and at a temporal locus centered on the ring border. All eyes demonstrated a macular ring of high-intensity AF. The inner segment ellipsoid band showed thinning and disorganization toward the ring border, where it was lost.

Figure 1

Patient 1, a 33-year-old man. Color montage of the left eye showing nummular pigmentation interspersed with yellow-white dots around the arcades.

Figure 2

Patient 1. (A) 55° fundus autofluorescence (AF) in the left eye showing a hyperautofluorescent ring demarcating the central macular area of relatively spared autofluorescence from the hypoautofluorescent periphery. (B) 30° AF centered temporally on the border of the ring. (C) SD-OCT horizontal line-scan through the fovea in the left eye extending temporally, corresponding to the cut from B. The dashed vertical line in C corresponds to the position marked in B with a dashed vertical line. Note the loss of the inner segment ellipsoid at the border of the ring.

Figure 3

Patient 2, an 11-year-old boy. Color montage of the left eye showing nummular pigmentation accompanied by pale mottling around the vascular arcades.

Figure 4

Patient 2. (A) 55° fundus autofluorescence (AF) in the left eye showing a hyperautofluorescent ring demarcating the central macular area of mottled hyperautofluorescence from the hypoautofluorescent periphery. (B) 30° AF centered temporally on the border of the ring. (C) SD-OCT horizontal line-scan through the fovea in the left eye extending temporally, corresponding to the cut from B. The dashed vertical line in C corresponds to the position marked in B with a dashed vertical line. Note the loss of the inner segment ellipsoid at the border of the ring.

Figure 5

Patient 3, a 27-year-old woman. Color montage in the right eye showing nummular pigmentation accompanied by yellow-white dots around the arcades.

Figure 6

Patient 3. (A) 55° fundus autofluorescence (AF) in the left eye showing a weakly hyperautofluorescent ring demarcating the central macular area of relatively spared autofluorescence from the hypoautofluorescent periphery. Nummular pigmentation in the periphery is shown to lack fluorescence. (B) 30° AF centered temporally on the border of the ring. (C) SD-OCT horizontal line-scan through the fovea in the left eye extending temporally, corresponding to the cut from B. The dashed vertical line in C corresponds to position marked in B with a dashed vertical line. Note the small cystic changes (possibly foveal schisis) in the parafoveal region. (D) Magnified view of C, demonstrating gradual disorganization of the ISe towards the ring border, where it is lost.

Figure 7

ISCEV-standard ERG tracings of each enhanced S-cone study patient. Rod-specific, maximal mixed rod and cone, 30-Hz flicker stimulus, and transient single-cone ERG waveforms are shown. Waveforms are from the left eye of patients 1 and 2 and the right eye of patient 3. The ERG responses to a standard single flash (cone) had similar waveforms under photopic (cone) and maximal scotopic conditions, except in waveform amplitude. The 30-Hz flicker stimulus waveforms have reduced amplitudes compared to single flash photopic (cone) a-waves. Note that patient 2 was unable to complete scotopic testing.