Effectiveness of refractive error correction for people with oculocutaneous albinism in South Indian population

G. Jayakrishnan, Nallamuthu P, Giridhar Ps
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Abstract

Introduction: Albinism comes from ‘albus’, the Latin word meaning white, and refers to a group of hereditary disorders wherein the biosynthesis of the pigment melanin is absent or reduced. Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder that involves a lack of pigment in the skin, hair, and eyes, and is associated with ocular and visual defects such as photophobia, strabismus, nystagmus and low vision. Materials and Methods: This was a cross sectional descriptive community based study conducted at a tertiary care medical college hospital. The Department of Ophthalmology enrolled 39 subjects satisfying the inclusion criteria. The diagnostic criteria for OCA patients included in the study, were those having ocular features of iris transillumination and retinal hypopigmentation in addition to depigmentation of the skin, hair and nails. Results: 39 patients with OCA were included, mean age 20 years. The largest proportion of participants (40%) included those between 16 and 25yrs. Using World Health Organization classification based on best corrected distance visual acuity, 8%, 70%, 15% and 7% of 78 eyes had normal vision, moderate VI, severe VI and blindness respectively. Conclusion: There is high prevalence of refractive, non-refractive and mixed ophthalmic disorders among albinos. There was significant improvement in visual acuity and function following optical correction and alignment in people with albinism, despite overall subnormal acuity. Refractive correction should be encouraged for people with albinism.
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南印度人群皮肤白化病患者屈光不正矫正的有效性
简介:白化病(Albinism)来自拉丁语“albus”,意思是白色,指的是一组遗传性疾病,其中黑色素的生物合成缺失或减少。眼皮肤白化病(OCA)是一种异质性常染色体隐性遗传病,涉及皮肤、头发和眼睛色素缺乏,并与视力缺陷如畏光、斜视、眼球震颤和低视力有关。材料与方法:本研究是在某三级专科医院进行的横断面描述性社区研究。眼科纳入39例符合纳入标准的受试者。本研究纳入的OCA患者的诊断标准是除了皮肤、头发和指甲的脱色外,还具有虹膜透光和视网膜色素沉着等眼部特征。结果:纳入39例OCA患者,平均年龄20岁。最大比例的参与者(40%)包括16至25岁的人。采用世界卫生组织最佳矫正距离视力分级,78只眼视力正常、中度VI、重度VI和失明分别为8%、70%、15%和7%。结论:白化病患者屈光性、非屈光性及混合性眼科疾病发生率较高。尽管白化病患者的整体敏锐度低于正常水平,但在光学矫正和对准后,他们的视力和功能有了显著的改善。应鼓励白化病患者进行屈光矫正。
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