OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

Michael S. Hansen; Marianne N Hove; Hanne Jensen; Michael Larsen

doi:10.1097/ICB.0000000000000200

OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

Michael S. Hansen, Marianne N Hove, Hanne Jensen, Michael Larsen

Department of Clinical Medicine

8 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Retinal Cases & Brief Reports
Volume	10
Issue number	2
Pages (from-to)	137-9
Number of pages	3
ISSN	1935-1089
DOIs	https://doi.org/10.1097/ICB.0000000000000200
Publication status	Published - 2016

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Journal Article

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10.1097/ICB.0000000000000200Licence: CC BY-NC-ND

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title = "OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS",

abstract = "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.",

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AU - Hansen, Michael S.

AU - Hove, Marianne N

AU - Jensen, Hanne

AU - Larsen, Michael

PY - 2016

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N2 - 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.

AB - 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.

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OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

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