Autofluorescence and infrared retinal imaging in patients and obligate carriers with neuronal ceroid lipofuscinosis.
OBJECTIVE
To measure fundus autofluorescence (FAF) in patients and obligate carriers with Neuronal Ceroid Lipofuscinosis (NCL) and document fundus abnormalities in NCL patients using standard retinal photography and confocal infra-red (IR) imaging.


METHODS
Twenty-seven patients with NCL, 50 obligate carriers of NCL, and 19 controls were imaged in IR and FAF modes by a confocal scanning laser opthalmoscope (HRA II, Heidelberg-Engineering, Inc). FAF intensities were referenced to the mean and standard deviation at the optic disk to remove inter-subject variance and then quantified along the horizontal and vertical meridians.


RESULTS
For NCL subjects, FAF images were successfully obtained in 16 eyes (9 of 27 subjects). Of these, 11 eyes had severely reduced or extinguished FAF and 5 eyes (3 subjects) could be analyzed along the meridians. An NCL subject with bilateral bull's eye maculopathy showed overall increased FAF, the remaining 3 eyes had advanced retinal degeneration and showed reduced FAF. Four patterns of macular disease were observed: 1) bull's eye atrophy 2) retinal pigment epithelium (RPE) dropout without pigmentary alterations, 3) RPE dropout with pigmentary alterations, 4) RPE dropout with pigmentary alterations and retinal flecks. Standard photography revealed focal retinal flecks in addition to severe retinal atrophy, RPE dropout, pigmentary clumping, and constricted vessels. Linear striations near the optic disc were highlighted by IR imaging. Topographical comparison of images demonstrated the focal flecks were not hyperfluorescent while the linear striations showed slight increases in FAF. For obligate carriers, FAF profiles were similar to controls with a mild increase in mean FAF intensity.


CONCLUSIONS
Patients with NCL show increases in retinal fluorophores in early stages and decreases in FAF in late stages of the disease. Obligate carriers of NCL have mildly elevated FAF but this finding is not a specific measure of the carrier state.
Division of Ophthalmology, Roger H. Johnson Clinical Vision Library, Seattle Children's Hospital, Seattle, Washington, USA.
John P
JP
Kelly
Avery H
AH
Weiss
Gus
G
Rowell
Gail M
GM
Seigel
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002648:Child; D003952:Diagnostic Imaging; D005260:Female; D005451:Fluorescein Angiography; D005453:Fluorescence; D006579:Heterozygote; D006801:Humans; D007259:Infrared Rays; D008062:Lipofuscin / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D009887:Ophthalmoscopy; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D055213:Retinal Pigment Epithelium / Q000378:metabolism / Q000473:pathology*; D055815:Young Adult
D008062:Lipofuscin