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Retinal and optic nerve changes in microcephaly: an optical coherence tomography study

Retinal and optic nerve changes in microcephaly: an optical coherence tomography study
Retinal and optic nerve changes in microcephaly: an optical coherence tomography study
Objective To investigate the morphology of the retina and optic nerve (ON) in microcephaly.

Methods This was a prospective case-control study including 27 patients with microcephaly and 27 healthy controls. All participants underwent ophthalmologic examination and handheld optical coherence tomography (OCT) of the macula and ON head. The thickness of individual retinal layers was quantified at the foveal center and the parafovea (1,000 μm nasal and temporal to the fovea). For the ON head, disc diameter, cup diameter, cup-to-disc ratio, cup depth, horizontal rim diameter, rim area, peripapillary retinal thickness, and retinal nerve fiber layer thickness were measured.

Results Seventy-eight percent of patients had ophthalmologic abnormalities, mainly nystagmus (56%) and strabismus (52%). OCT abnormalities were found in 85% of patients. OCT revealed disruption of the ellipsoid zone, persistent inner retinal layers, and irregular foveal pits. Parafoveal retinal thickness was significantly reduced in patients with microcephaly compared to controls, nasally (307 ± 44 vs 342 ± 19 μm, p = 0.001) and temporally (279 ± 56 vs 325 ± 16 μm, p < 0.001). There was thinning of the ganglion cell layer and the inner segments of the photoreceptors in microcephaly. Total peripapillary retinal thickness was smaller in patients with microcephaly compared to controls for both temporal (275 vs 318 μm, p < 0.001) and nasal sides (239 vs 268 μm, p = 0.013).

Conclusions Retinal and ON anomalies in microcephaly likely reflect retinal cell reduction and lamination alteration due to impaired neurogenic mitosis. OCT allows diagnosis and quantification of retinal and ON changes in microcephaly even if they are not detected on ophthalmoscopy.
0028-3878
e571-e585
Papageorgiou, Eleni
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Pilat, Anastasia
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Proudlock, Frank
b871e8dd-b6ff-47b3-bf00-3da75c685947
Lee, Helena
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Purohit, Ravi
35a65d7f-5133-41ce-a2f8-0fc40b137616
Sheth, Viral
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Vasudevan, Pradeep
60a989b7-5b4f-4a99-80fd-2236404603a9
Gottlob, Irene
a504e420-9d7f-4dd5-8e3e-ad48a24a8f9e
Papageorgiou, Eleni
90f8eeb1-9087-41f3-a9f4-7d232dbce5c2
Pilat, Anastasia
46ca4412-8575-45a0-9e9f-409462eb9e68
Proudlock, Frank
b871e8dd-b6ff-47b3-bf00-3da75c685947
Lee, Helena
5d36fd1e-9334-4db5-b201-034d147133fb
Purohit, Ravi
35a65d7f-5133-41ce-a2f8-0fc40b137616
Sheth, Viral
fc67cd1e-d883-42e7-b646-cc49929cd599
Vasudevan, Pradeep
60a989b7-5b4f-4a99-80fd-2236404603a9
Gottlob, Irene
a504e420-9d7f-4dd5-8e3e-ad48a24a8f9e

Papageorgiou, Eleni, Pilat, Anastasia, Proudlock, Frank, Lee, Helena, Purohit, Ravi, Sheth, Viral, Vasudevan, Pradeep and Gottlob, Irene (2018) Retinal and optic nerve changes in microcephaly: an optical coherence tomography study. Neurology, 91 (6), e571-e585. (doi:10.1212/WNL.0000000000005950).

Record type: Article

Abstract

Objective To investigate the morphology of the retina and optic nerve (ON) in microcephaly.

Methods This was a prospective case-control study including 27 patients with microcephaly and 27 healthy controls. All participants underwent ophthalmologic examination and handheld optical coherence tomography (OCT) of the macula and ON head. The thickness of individual retinal layers was quantified at the foveal center and the parafovea (1,000 μm nasal and temporal to the fovea). For the ON head, disc diameter, cup diameter, cup-to-disc ratio, cup depth, horizontal rim diameter, rim area, peripapillary retinal thickness, and retinal nerve fiber layer thickness were measured.

Results Seventy-eight percent of patients had ophthalmologic abnormalities, mainly nystagmus (56%) and strabismus (52%). OCT abnormalities were found in 85% of patients. OCT revealed disruption of the ellipsoid zone, persistent inner retinal layers, and irregular foveal pits. Parafoveal retinal thickness was significantly reduced in patients with microcephaly compared to controls, nasally (307 ± 44 vs 342 ± 19 μm, p = 0.001) and temporally (279 ± 56 vs 325 ± 16 μm, p < 0.001). There was thinning of the ganglion cell layer and the inner segments of the photoreceptors in microcephaly. Total peripapillary retinal thickness was smaller in patients with microcephaly compared to controls for both temporal (275 vs 318 μm, p < 0.001) and nasal sides (239 vs 268 μm, p = 0.013).

Conclusions Retinal and ON anomalies in microcephaly likely reflect retinal cell reduction and lamination alteration due to impaired neurogenic mitosis. OCT allows diagnosis and quantification of retinal and ON changes in microcephaly even if they are not detected on ophthalmoscopy.

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Accepted/In Press date: 27 April 2018
e-pub ahead of print date: 11 July 2018
Published date: 7 August 2018

Identifiers

Local EPrints ID: 428093
URI: http://eprints.soton.ac.uk/id/eprint/428093
ISSN: 0028-3878
PURE UUID: 77476fd8-efa0-4e7a-ba9e-93cd98824a1a
ORCID for Helena Lee: ORCID iD orcid.org/0000-0002-2573-9536

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Date deposited: 08 Feb 2019 17:30
Last modified: 16 Mar 2024 04:21

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Contributors

Author: Eleni Papageorgiou
Author: Anastasia Pilat
Author: Frank Proudlock
Author: Helena Lee ORCID iD
Author: Ravi Purohit
Author: Viral Sheth
Author: Pradeep Vasudevan
Author: Irene Gottlob

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