Will my child with albinism lose vision over time? Age-related vision loss in adults with albinism

Authors: 
Emily Rouse, Kai Wang, Arlene V Drack, Wanda Pfeifer

Introduction
Albinism is associated with congenital nystagmus, foveal hypoplasia, iris transillumination and optic nerve anomalies. Because it is a panocular developmental disorder, we sought to study other common ocular disorders in adults with albinism.
Methods
Retrospective chart review of albinism patients in one practice examined at least twice after 18 years old. Prevalence of ocular conditions was compared to United States population norms using Binomial test and Wald test (P = 0.05).
Results
75 charts fit inclusion criteria, 40 male. Average age was 46 years (range, 18-107). Average time between first and last examination was 17.6 years. Average visual acuity was 20/87 Snellen (range, 20/20-light perception). Nystagmus (P = 6.16E-217) and strabismus (P = 4.00E-48) were overrepresented in the ophthalmology clinic albinism population, as expected. Cataracts, glaucoma, and age-related macular degeneration (AMD) (P = 0.000145,0.017,0.025 respectively) were more common than in the general population. Age at documentation averaged 55 years for cataract (childhood-74), 58 years glaucoma (29-76), 75 years AMD (57-95). Patients first ascertained between 11-29 years and followed an average 18.6 years (10-45) had no worsening of vision over time (logMAR change −0.16).
Conclusion/Relevance
Albinism is more than a pigment deficiency; it is a developmental ocular disorder that affects the entire eye. People with albinism should be followed throughout life as they may have higher prevalence of cataracts, AMD and glaucoma, if confirmed by larger population studies. Visual acuity averaged 20/87 for adults and did not decrease, on average, over the lifespan. Of note, age related macular degeneration occurred, despite the absence of an anatomic macula.

Journal: 
Journal of American Association for Pediatric Ophthalmology and Strabismus
Publication Date: 
Aug 1 2022