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Title: Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.
Authors: Papageorgiou, Eleni
Pilat, Anastasia
Proudlock, Frank
Lee, Helena
Purohit, Ravi
Sheth, Viral
Vasudevan, Pradeep
Gottlob, Irene
First Published: 11-Jul-2018
Publisher: American Academy of Neurology (AAN, Lippincott, Williams & Wilkins [
Citation: Neurology, 2018, 91 (6), pp. e571-e585
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.
DOI Link: 10.1212/WNL.0000000000005950
ISSN: 0028-3878
eISSN: 1526-632X
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © the authors, 2018. This is an open-access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Description: Anonymized data not published within this article will be made available by request from any qualified investigator.
Appears in Collections:Published Articles, Dept. of Neuroscience, Psychology and Behaviour

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