FEB 13, 2023
Pediatric Ophth/Strabismus, Retina/Vitreous
In children with albinism, foveal hypoplasia may be linked to additional retinal development occurring after birth.
This prospective, single-center cohort OCT study was conducted in the United Kingdom and enrolled 43 children with albinism aged 0–6 years and 148 age- and race-matched controls. For the OCT evaluation, inner retinal layers (IRLs) and outer retinal layers (ORLs) were compared between the children with albinism and the control group.
The central macula was thicker for the albinism group than the control group; in particular, the IRL at the fovea was thicker at all measured timepoints (109.1 µm vs 17.2 µm, respectively). In addition, decreases in the foveal ORL thickness were seen in patients with albinism after age 21 months. The findings from the IRL and ORL measurements indicated that there was ongoing retinal development up to age 5 years (patients were evaluated up to 69 months postmenstrual age). Although the retina development in children with albinism has impaired migration, the results strongly indicate retinal plasticity in early childhood.
A limitation of the study is the small cohort size of the albinism group. There is a significant phenotypic heterogenous spectrum regarding foveal hypoplasia, and it would be helpful if future studies include a population of >100 children with albinism. The interpretation of OCT-measured IRL and ORL with variation in foveal hypoplasia must be considered when comparing an albinism cohort of <50 children.
While the clinical evaluation of the IRL and ORL with OCT is very valuable, in children aged <5 years it is difficult to get an accurate assessment of OCT macula, especially with abnormal fixation, low vision, and nystagmus. While the authors show that retina development in children with albinism does not stop during childhood, particularly when they are toddlers, the use of OCT to measure IRL and ORL outcomes as a clinical benchmark is very limiting in clinical practice.
Financial disclosures: Dr. Jennifer Galvin discloses no financial relationships.