PMC10032463_01
Fundus imaging of both eyes of a patient with end-stage Sjogren-Larsson
syndrome (SLS). Fundus photographs of the (a) right and (b) left eyes show
depigmented, pale areas in the central macula associated with faint yellow
parafoveal crystalline deposits more numerous in the left than the right
eye. Fluorescein angiography reveals staining of the inclusions in the (c)
right and (d) left eyes. Fundus autofluorescence images illustrate
hyperfluorescence with a speckled hypo-autofluorescence pattern in the
parafoveal region of both the (e) right and (f) left eyes.
10.1177_26330040221122496-fig1.jpg
PMC10032463_01_10.1177_26330040221122496-fig1.jpg
fig1-26330040221122496
Dilated fundus examination revealed depigmented, pale areas of atrophy of the central macula in both eyes associated with glistening crystal-like deposits consistent with a crystalline maculopathy (Figure 1(a) and (b)). Fluorescein angiography revealed stippled hyperfluorescence in the parafovea with staining of the crystalline macular deposits (Figure 1(c) and (d)). Fundus autofluorescence demonstrated parafoveal hyperfluorescence with a speckled hypo-autofluorescence pattern in both eyes (Figure 1(e) and (f)).
Imaging of the macula of a patient with end-stage Sjogren-Larsson syndrome
(SLS). Horizontal high-definition (4096 A-scans) 6 mm spectral domain
optical coherence tomography (SD-OCT) scans centered on the fovea of the
right (a) and left (b) eyes (Cirrus software version 11.5.2.54532; Carl
Zeiss Meditec, Inc. Dublin, CA). Outer retinal loss involves the parafovea
of both eyes associated with cystoid macular degeneration. There is
vitreomacular traction in both eyes with vitreous syneresis. A thin serous
detachment of the macula is evident in the right eye. A distinct lack of
reverse shadowing demonstrates the relative sparing of the retinal pigment
epithelium layer. En face macular thickness maps (colored)
derived from the 6 mm macular cube (512 x 128 macular cube) overlying the
corresponding near-infrared reflectance fundus image (36  x 30 ) centered on
the fovea of the right (c) and left (d) eyes, respectively. Central macular
thickness was significantly decreased to 118 microm on the right and 119 microm on
the left.
10.1177_26330040221122496-fig2.jpg
PMC10032463_01_10.1177_26330040221122496-fig2.jpg
fig2-26330040221122496
Optical coherence tomography (OCT) demonstrated central macular atrophy with ellipsoid zone (EZ) band loss associated with cystoid degeneration and vitreomacular traction in both eyes (Figure 2).