Retinal development in infants and young children with albinism: evidence for plasticity in early childhood
Retinal development in infants and young children with albinism: evidence for plasticity in early childhood
Meeting Presentation: Presented at the 2016 Association for Research in Vision and Ophthalmology meeting and at the 2015 British Isles Paediatric, Ophthalmology and Strabismus Association meeting. Purpose: To investigate the time course of foveal development after birth in infants with albinism. Design: Prospective, comparative cohort optical coherence tomography study. Methods: Thirty-six children with albinism were recruited. All participants were between 0 and 6 years of age and were seen at Leicester Royal Infirmary. A total of 181 mixed cross-sectional and longitudinal optical coherence tomography 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 < .0001 at 69 months PMA). There was evidence of ongoing foveal ORL elongation in albinism, although reduced in amplitude compared with control subjects after 21 months PMA (Δ = -17.3 ± 4.3, P < .0001). Conclusions: We have demonstrated evidence of ongoing retinal development in young children with albinism, albeit at a reduced rate and magnitude compared with control subjects. 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.
202-211
Lee, Helena
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Purohit, Ravi
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Sheth, Viral
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Maconachie, Gail
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Zhanhan, Tu
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Thomas, Mervyn G.
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Pilat, Anastasia
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McLean, Rebecca J.
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Proudlock, Frank A.
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Gottlob, Irene
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January 2023
Lee, Helena
5d36fd1e-9334-4db5-b201-034d147133fb
Purohit, Ravi
35a65d7f-5133-41ce-a2f8-0fc40b137616
Sheth, Viral
ae17ad77-8a2d-4ae0-8347-63de81012abd
Maconachie, Gail
5653f342-04a5-486d-a716-9fae85472eee
Zhanhan, Tu
e42a4bb0-142b-41a8-a13b-7b1b4930573c
Thomas, Mervyn G.
8e6aea5c-113e-4fd7-81e9-5937f94f1a4d
Pilat, Anastasia
46ca4412-8575-45a0-9e9f-409462eb9e68
McLean, Rebecca J.
f8f5713c-09a7-4715-b8f7-f1d7b76a24c5
Proudlock, Frank A.
8723b327-c834-4884-a343-f2821a17eedb
Gottlob, Irene
4fae5bb9-2189-4eb2-ac59-fb6b57d7474f
Lee, Helena, Purohit, Ravi, Sheth, Viral, Maconachie, Gail, Zhanhan, Tu, Thomas, Mervyn G., Pilat, Anastasia, McLean, Rebecca J., Proudlock, Frank A. and Gottlob, Irene
(2023)
Retinal development in infants and young children with albinism: evidence for plasticity in early childhood.
American Journal of Ophthalmology, 245, .
(doi:10.1016/j.ajo.2022.08.028).
Abstract
Meeting Presentation: Presented at the 2016 Association for Research in Vision and Ophthalmology meeting and at the 2015 British Isles Paediatric, Ophthalmology and Strabismus Association meeting. Purpose: To investigate the time course of foveal development after birth in infants with albinism. Design: Prospective, comparative cohort optical coherence tomography study. Methods: Thirty-six children with albinism were recruited. All participants were between 0 and 6 years of age and were seen at Leicester Royal Infirmary. A total of 181 mixed cross-sectional and longitudinal optical coherence tomography 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 < .0001 at 69 months PMA). There was evidence of ongoing foveal ORL elongation in albinism, although reduced in amplitude compared with control subjects after 21 months PMA (Δ = -17.3 ± 4.3, P < .0001). Conclusions: We have demonstrated evidence of ongoing retinal development in young children with albinism, albeit at a reduced rate and magnitude compared with control subjects. 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.
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Accepted Manuscript 30 AUG 2022
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Accepted/In Press date: 23 August 2022
e-pub ahead of print date: 6 September 2022
Published date: January 2023
Additional Information:
Funding Information:
Funding/Support: Supported by Medical Research Council grant numbers MR/J004189/1 and MR/N004566/1, the Ulverscroft Foundation, Leicester, The National Eye Research Centre, and the Nystagmus Network UK. The sponsor or funding organization had no role in the design or conduct of this research. M.G.T. is supported by National Institute for Health and Care Research grant number CL-2017-11-003).
Funding Information:
ALL AUTHORS HAVE COMPLETED AND SUBMITTED THE ICMJE FORM FOR DISCLOSURE OF POTENTIAL CONFLICTS OF INTEREST and none were reported. Funding/Support: Supported by Medical Research Council grant numbers MR/J004189/1 and MR/N004566/1, the Ulverscroft Foundation, Leicester, The National Eye Research Centre, and the Nystagmus Network UK. The sponsor or funding organization had no role in the design or conduct of this research. M.G.T. is supported by National Institute for Health and Care Research grant number CL-2017-11-003). Financial Disclosures: The authors indicate no conflicts of interest. All data supporting this study are openly available from the University of Southampton repository athttps://doi.org/10.5258/SOTON/D2354. All authors attest that they meet the current ICMJE criteria for authorship.
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© 2022 The Author(s)
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Local EPrints ID: 469898
URI: http://eprints.soton.ac.uk/id/eprint/469898
ISSN: 0002-9394
PURE UUID: 857cf2c3-95ae-4c70-b2f0-a103dc50be95
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Date deposited: 28 Sep 2022 16:38
Last modified: 17 Mar 2024 07:29
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Contributors
Author:
Ravi Purohit
Author:
Viral Sheth
Author:
Gail Maconachie
Author:
Tu Zhanhan
Author:
Mervyn G. Thomas
Author:
Anastasia Pilat
Author:
Rebecca J. McLean
Author:
Frank A. Proudlock
Author:
Irene Gottlob
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