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2016 ; 10
(2
): 137-9
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OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS
#MMPMID26308342
Hansen MS
; Hove MN
; Jensen H
; Larsen M
Retin Cases Brief Rep
2016[Spr]; 10
(2
): 137-9
PMID26308342
show ga
PURPOSE: To report optical coherence tomography findings obtained in two patients
with juvenile neuronal ceroid lipofuscinosis. METHODS: Two case reports. RESULTS:
Two 7-year-old girls presented with decreased visual acuity, clumsiness, night
blindness, and behavioral problems. Optical coherence tomography showed an
overall reduction in thickness of the central retina, as well as the outer and
the inner retinal layers. The degenerative retinal changes were the same, despite
different mutations in the CLN3 gene. CONCLUSION: In these rare cases of juvenile
neuronal ceroid lipofuscinosis, optical coherence tomography enabled unambiguous
detection of prominent morphologic abnormalities of the retina at the patient's
first presentation. The advanced stage of photoreceptor degeneration seen in our
patients shows that a diagnosis can potentially be made much earlier.