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

Institut for Klinisk Medicin

8 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Retinal Cases & Brief Reports
Vol/bind	10
Udgave nummer	2
Sider (fra-til)	137-9
Antal sider	3
ISSN	1935-1089
DOI	https://doi.org/10.1097/ICB.0000000000000200
Status	Udgivet - 2016

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

Citationsformater

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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

Y1 - 2016

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.

KW - Journal Article

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JO - Retinal Cases & Brief Reports

JF - Retinal Cases & Brief Reports

IS - 2

ER -

OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

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