Abstract
ObjectiveTo investigate the morphology of the retina and optic nerve (ON) in microcephaly.MethodsThis 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.ResultsSeventy-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).ConclusionsRetinal 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.
Highlights
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)
optical coherence tomography (OCT) allows diagnosis and quantification of retinal and optic nerve (ON) changes in microcephaly even if they are not detected on ophthalmoscopy
Handheld optical coherence tomography The retinae and optic discs of the study participants were scanned with a portable, noncontact, HH spectral-domain OCT device (Leica Microsystems, Buffalo Grove, IL) using a protocol described previously.[14]
Summary
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. Participants Twenty-seven patients with primary microcephaly (15 female, 12 male, mean age 9.4 ± 7.8 years) and 27 age-matched healthy controls (15 female, 12 male, mean age 9.0 ± 7.2 years) were included in this prospective observational study. Handheld optical coherence tomography The retinae and optic discs of the study participants were scanned with a portable, noncontact, HH spectral-domain OCT device (Leica Microsystems, Buffalo Grove, IL) using a protocol described previously.[14] All children were scanned in an outpatient clinic setting without sedation. The pupils were dilated with cyclopentolate 1% All tests were conducted on the same day by 3 different examiners (E.P., R.P., V.S.) in the same examination room
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
