title: A cross-sectional examination of visual acuity by specific type of albinism.
abstract: Reports of best-corrected visual acuity (BCVA) in albinism are often based on overlapping clinical phenotypes. BCVA in albinism has been shown to improve with age. This study reports a large cross-sectional investigation to determine whether BCVA differs by specific type of albinism when age-corrected.
  
  
  
  This retrospective review identified 170 individuals with a specific type of albinism identified by mutation(s) in a gene known to cause albinism (for OCA1, OCA2, and Hermansky-Pudlak syndrome ([HPS]) or a specific phenotype (white hair and no melanin pigment in OCA1A; pigmentary mosaicism in the obligate carriers for males with OA1). We recorded optotype binocular BCVA at final follow-up. Patients were age-grouped (2-5 years, 6-14 years, and ≥15 years) for comparison.
  
  
  
  The greatest visual acuity deficit was found for OCA1A in all age groups. At age ≥15 years (n = 79), mean BCVA was 20/128 for OCA1A, 20/37 for OCA1B, 20/59 for OCA2, 20/63 for OA1, and 20/121 for HPS. Significant differences between BCVA at ≥15 years were found in the following: OCA1A vs OCA1B, OCA1A vs OCA2, OCA1A vs OA1, OCA1B vs HPS, OCA2 vs HPS, and OA1 vs HPS (P ≤ 0.02).
  
  
  
  This study provides a large sample size and includes only those with a specific type of albinism. BCVA varies by albinism type, and there is overlap in BCVA, particularly in the younger age groups. For ages ≥15 years, there are significant differences in BCVA between several types of albinism.
authors.affiliation: Hamline University, St. Paul, Minnesota.
authors.forename: Caitlin Nosanov
authors.initials: CN
authors.lastname: Winsor
authors.affiliation: Department of Ophthalmology and Visual Neurosciences, Medical School, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Ann M
authors.initials: AM
authors.lastname: Holleschau
authors.affiliation: Division of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, Minnesota; Biostatistical Design and Analysis Center, CTSI, Division of Biostatistics, School of Public Health University of Minnesota, Minneapolis, Minnesota.
authors.forename: John E
authors.initials: JE
authors.lastname: Connett
authors.affiliation: Department of Ophthalmology and Visual Neurosciences, Medical School, University of Minnesota, Minneapolis, Minnesota; Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota. Electronic address: summe001@umn.edu.
authors.forename: C Gail
authors.initials: CG
authors.lastname: Summers
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016115:Albinism, Oculocutaneous / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D014792:Visual Acuity / Q000502:physiology*