A cross-sectional examination of visual acuity by specific type of albinism
pmid: 27647118
A cross-sectional examination of visual acuity by specific type of albinism
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.
- University of Minnesota United States
- University of Minnesota Morris United States
- University of Minnesota System United States
- Hamline University United States
Adult, Aged, 80 and over, Male, Adolescent, Visual Acuity, Middle Aged, Cross-Sectional Studies, Phenotype, Albinism, Oculocutaneous, Hermanski-Pudlak Syndrome, Child, Preschool, Mutation, Humans, Female, Child, Aged, Retrospective Studies
Adult, Aged, 80 and over, Male, Adolescent, Visual Acuity, Middle Aged, Cross-Sectional Studies, Phenotype, Albinism, Oculocutaneous, Hermanski-Pudlak Syndrome, Child, Preschool, Mutation, Humans, Female, Child, Aged, Retrospective Studies
13 Research products, page 1 of 2
- 2000IsAmongTopNSimilarDocuments
- 2007IsAmongTopNSimilarDocuments
- 2011IsAmongTopNSimilarDocuments
- 2013IsAmongTopNSimilarDocuments
- 2008IsAmongTopNSimilarDocuments
- 2018IsAmongTopNSimilarDocuments
- 2017IsAmongTopNSimilarDocuments
- 2012IsAmongTopNSimilarDocuments
- 2020IsAmongTopNSimilarDocuments
chevron_left - 1
- 2
chevron_right
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).8 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
