Retinal Plasticity in Albinism May Provide Possibility to Therapy

Researchers find evidence of plasticity in retinal development in infants and young children with albinism.

Young children with albinism undergo a sustained period of retinal plasticity when treatment could potentially improve the development and optimize visual function, according to research published in the American Journal of Ophthalmology.

Researchers conducted a prospective, comparative cohort study to investigate foveal development after birth in infants and young children with albinism using optical coherence tomography (OCT). 

The researchers recruited 36 children with albinism, aged 0 to 6 years. They examined a total of 181 mixed cross-sectional and longitudinal OCT images and compared retinal development findings with those of 297 cross-sectional examinations of control participants.

This presents us with several therapeutic possibilities, some of which are already being administered on a trial basis in oculocutaneous albinism.

The researchers found that inner retinal layer migration from the fovea was nearly complete at birth in control participants; whereas, it continued after birth and was arrested at 40 months postmenstrual age (PMA) in children with albinism. They also observed foveal hypoplasia, which was heterogeneous among individuals, in all the tomograms from the children with albinism, suggesting that albinism is a heterogenous group of conditions.

The team documented significantly thicker central macular thickness in children with albinism (mean difference at 69 months PMA, 83.8±6.1 months; P <.0001). They also reported evidence of ongoing foveal outer retinal layer elongation in children with albinism that was reduced in amplitude compared with controls after 21 months PMA (mean difference, -17.3±4.3 months; P <.0001).

“Ongoing regression of the inner retinal layers and elongation of the outer retinal layers in albinism, although delayed and incomplete in comparison to normal controls, suggest that there is a period of residual plasticity where treatments could potentially be targeted,” explain the researchers. “This presents us with several therapeutic possibilities, some of which are already being administered on a trial basis in oculocutaneous albinism.”

References:

Lee H, Purohit R, Sheth V, et al. Retinal development in infants and young children with albinism: evidence for plasticity in early childhood. Am J Ophthalmol. Published online September 6, 2022. doi:10.1016/j.ajo.2022.08.028