A cross-sectional examination of visual acuity by specific type of albinism
| Autor: | John E. Connett, Ann M. Holleschau, C. Gail Summers, Caitlin Nosanov Winsor |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Younger age Visual acuity Adolescent genetic structures Cross-sectional study Visual Acuity Audiology 03 medical and health sciences 0302 clinical medicine Age groups Ophthalmology Humans Medicine Child Aged Retrospective Studies Aged 80 and over OCA2 business.industry Retrospective cohort study Middle Aged medicine.disease eye diseases Cross-Sectional Studies Phenotype 030104 developmental biology Albinism Oculocutaneous Hermanski-Pudlak Syndrome Child Preschool Mutation Pediatrics Perinatology and Child Health 030221 ophthalmology & optometry Albinism Female sense organs medicine.symptom Melanin pigment business |
| Zdroj: | Journal of American Association for Pediatric Ophthalmology and Strabismus. 20:419-424 |
| ISSN: | 1091-8531 |
| DOI: | 10.1016/j.jaapos.2016.06.006 |
| Popis: | Purpose 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. Methods 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. Results 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). Conclusions 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. |
| Databáze: | OpenAIRE |
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