Visual rehabilitation of patients with oculocutaneous albinism Type I (OCA1): Results in 85 patents

Abstract

Purpose: To test the hypothesis that a systematic, combination treatment of patients with oculocutaneous albinism type 1 (OCA 1) results in improvement in multiple measures of visual and ocular motor function. Methods: This is a prospective, interventional case series analysis of clinical and electrophyisological data before and after multimodal visual system therapy in 85 patients with OCA 1 who had no previous treatment. Therapy included a three step approach after adaptation to spectacle correction: 1) extraocular muscle surgery, 2) contact lens correction, 3) oral baclofen (Lioresal R). Outcome measures included: 1) routine demography and clinical characteristics, 2) binocular best-corrected visual acuity in the null position (BVA), 3) gaze dependent visual acuity (GDVA), 4) primary position strabismic deviation (SD), 5) anomalous head posture (AHP), 6) contrast sensitivity function (CS), and 7) the expanded nystagmus acuity function (eNAFX). All patients were followed at least 12 months. Parametric and non-parametric statistical analysis of outcome measure data above pre-and post-treatment were perfomed using standard software on grouped data using computerized software. Results: Patient age ranged from 3.6 to 43.1 years (average 16 years). 63% were male. Follow up ranged from 12-50 mos (ave 15.1 mos). 7% had an associated systemic diagnosis, 95% had a significant refractive error, 88% percent had an AHP, 36% had a periodic or aperiodic component to their nystagmus. 97% had strabismus. There were no serious complications from surgery with a reoperation rate of 12%. There were signficant post treatment improvements in mean/median group BVA, GDVA, SD, AHP, CS, and eNAFX. Conclusion: This study supports the hypothesis that using a combination of standard optical, medical and surgical treatments in patients with OCA1 will result in improvements in multiple aspects of ocular motor and visual functions. Synopsis: This study demonstrates how using a combination of standard medical, optical and surgical therapy results in improvements in ocular motor and visual functions in patients with OCA1.