Abstract
Retinal Development in Infants and Young Children with Achromatopsia
Highlights
Postnatal development of the human retina involves centrifugal displacement of the inner retinal layers (IRLs) from the fovea, centripetal migration of the cone photoreceptors into the fovea, and elongation of the photoreceptors with age.[1,2] It is not clear whether retinal development in infants and young children with achromatopsia (ACHM) occurs in a similar way and whether any retinal changes that occur are progressive in early childhood
The foveal outer retinal layers (ORLs) in ACHM were significantly thinner, being 0.6 times thinner than mean control values (P < 0.0001), which was attributable to reductions in the photoreceptor inner segment (IS), outer segment (OS), and outer nuclear layer (Fig 2C)
The perifoveal IRLs were significantly thinner in ACHM (P < 0.01; Fig 2B), which was attributable to changes in the plexiform layers (Fig 2D, E)
Summary
Postnatal development of the human retina involves centrifugal displacement of the inner retinal layers (IRLs) from the fovea, centripetal migration of the cone photoreceptors into the fovea, and elongation of the photoreceptors with age.[1,2] It is not clear whether retinal development in infants and young children with achromatopsia (ACHM) occurs in a similar way and whether any retinal changes that occur are progressive in early childhood. We undertook a longitudinal optical coherence tomography (OCT) study of in vivo foveal development in a cohort of 10 children with a confirmed genetic diagnosis of ACHM (Table 1, available at www.aaojournal.org). Longitudinal data were available for 7 of the 10 children with ACHM, with a mean follow-up time of 18.9 months (range, 5.3e35.5).
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