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J.P. Kelly, G.M. Seigel, A.H. Weiss; Autofluorescence and IR Imaging With a Confocal SLO in NCL Carriers and Patients . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5642.
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One characteristic of neuronal ceroid lipofuscinosis (NCL) is the accumulation of autofluorescent lipofuscin storage material in the CNS, including the retina. Retinal degeneration can be the first clinical symptom. This study examined whether increased retinal fluorescence is present in the NCL carrier state and affected patients.
NCL carriers (n = 23), affected offspring (n = 8), and 2 normal controls were recruited at the Annual Batten Disease Support and Research Association (BDSRA) meeting. Retinal imaging was acquired with an HRA II confocal scanning laser ophthalmoscope (cSLO; Heidelberg Engineering) using natural pupils. Fundus images were collected under infra–red (IR) and autofluorescence (ex = 488 nm) modes across a 30 x 30 degree field at 1536 x 1536 pixel resolution. AF intensity profile data were collected along the horizontal and vertical meridia centered on the fovea and normalized by the relationship: Relative AF intensity (x, y) = log( i(x, y) / s.d.(optic nerve head).
Relative autofluorescence (AF) levels in NCL carriers did not differ significantly from 2 controls. The autofluorescence profile was similar to published normative data, which showed relatively higher autofluorescence in the temporal relative to the nasal retina along the horizontal meridian (Robson et al. Vision Res. 2003;43,1765; Smith et al. IOVS, 2005;46,2940). On IR imaging, NCL patients showed severe loss of retinal pigmentation with prominence of the underlying choroidal vasculature, pigmentary clumping, and attenuation of blood vessel caliber. Furthermore, NCL patients show a striated pattern in the inner retina of adjacent to the optic disc. These striations could represent wrinkling of the atrophic inner retinal layers. AF images could only be obtained in 2 affected children near the disk. AF images could be overlaid on top of the IR images for comparison, but showed overall low AF signal.
Although we anticipated carriers of NCL would have abnormally increased lipofuscin accumulation, we did not find an increased autofluorescence in the relative intensity profile.
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