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Published on: August 11, 2016
Retinal Development in Infants and Young Children With Albinism: Evidence for Plasticity in Early Childhood
Helena Lee1, Ravi Purohit1, Viral Sheth1
1From the University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, United Kingdom.
Insights
Infants with albinism show delayed foveal development after birth, with inner retinal layer migration continuing until 40 months postmenstrual age. This ongoing retinal plasticity suggests potential for interventions to improve visual function in albinism.
Area of Science:
- Ophthalmology
- Developmental Biology
- Genetics
Background:
- Albinism is a group of genetic disorders characterized by a lack of pigment in the skin, hair, and eyes.
- Foveal development is crucial for sharp central vision, and abnormalities can lead to significant visual impairment.
- Understanding the timeline of foveal development in albinism is essential for identifying potential therapeutic windows.
Purpose of the Study:
- To investigate the time course and characteristics of foveal development after birth in infants with albinism.
- To compare retinal development in infants with albinism to that of healthy control subjects.
Main Methods:
- A prospective, comparative cohort study utilizing optical coherence tomography (OCT).
- Recruited 36 children with albinism (0-6 years) and 297 control subjects.
- Analyzed 181 OCT examinations for differences in retinal layer migration and elongation compared to controls.
Main Results:
- Inner retinal layer (IRL) migration from the fovea, nearly complete at birth in controls, continued postnatally in albinism, arresting at 40 months postmenstrual age (PMA).
- Albinism exhibited significantly thicker central macular thickness compared to controls (P < .0001 at 69 months PMA).
- Outer retinal layer (ORL) elongation occurred in albinism but was reduced in amplitude after 21 months PMA (P < .0001).
Conclusions:
- Retinal development continues in early childhood in infants with albinism, but at a slower rate and reduced magnitude than in controls.
- The observed period of retinal plasticity in early childhood suggests that interventions aimed at enhancing retinal development could potentially improve visual outcomes in albinism.
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.
