Retinal development in infants and young children with albinism: evidence for plasticity in early childhood

Abstract

Purpose
To investigate the time-course of foveal development after birth in infants with albinism.

Design
Prospective, comparative cohort optical coherence tomography (OCT) study

Methods
36 children with albinism were recruited. All participants were aged between 0 and 6 years and were seen at Leicester Royal Infirmary. A total of 181 mixed cross-sectional and longitudinal OCT examinations were obtained, which were analyzed for differences in retinal development in comparison to 297 cross-sectional control examinations.

Results
Normal retinal development involves migration of the inner retinal layers (IRLs) away from the fovea, migration of the cone photoreceptors into the fovea and elongation of the outer retinal layers (ORLs) over time. In contrast to controls where IRL migration from the fovea was almost completed at birth, a significant degree of IRL migration was taking place after birth in albinism, before arresting prematurely at 40 months postmenstrual age (PMA). This resulted in a significantly thicker central macular thickness in albinism (Δ=83.8±6.1, p<0.0001 at 69 months PMA). There was evidence of ongoing foveal ORL elongation in albinism, although reduced in amplitude compared to controls after 21 months PMA (Δ=-17.3±4.3, p<0.0001).

Conclusions
We have demonstrated evidence of ongoing retinal development in young children with albinism, albeit at a reduced rate and magnitude compared to controls. The presence of a period of retinal plasticity in early childhood raises the possibility that treatment modalities, which aim to improve retinal development, could potentially optimize visual function in albinism.

Key Words
Albinism; Retinal; Development; Optical Coherence Tomography

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Identifiers

ORCID for Helena Lee: orcid.org/0000-0002-2573-9536

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