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Visual consequences of Albinism

  • Purpose: The purpose of this thesis is to provide a comprehensive literature review about albinism as an inherited metabolic disorder of melanin synthesis along with those related conditions impacting the visual system. As such, it addresses eye care emphasizing the visual consequences of albinism along with diagnostic and treatment options. Methods: Background knowledge about ocular development is given as well as information about etiological biochemical and genetic processes. The current classification, clinical findings and their assessment and management options are presented based on recent results of research. In conclusion, two case reports are described as examples of visual care options. Results: Melanin plays a big role in the retinal and chiasmal development. Melanin biosynthesis can be disrupted by different genes in various ways which leads to the current classification of albinism. Clinical findings include fundus hypopigmenta-tion, nystagmus, iris transillumination, photophobia, foveal hypoplasia, excessive chiasmal decussation, reduced visual acuity, high astigmatism (with-the-rule), strabismus and decreased stereopsis. Treatment options to improve visual acuity, fixation and binocularity are (tinted) prescription lenses and contact lenses, low vision aids, surgical procedures and vision therapy. Medication and supplementa-tion for increased pigmentation are currently being tested on mice. Conclusions: Albinism is caused by genetic mutations resulting in ocular and cutaneous hypopigmentation. It establishes various phenotypes that require different therapy approaches in order to improve vision and therefore quality of life.

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Author:Katharina Breher
Advisor:Steffen Kreikemeier, Willard Bleything
Document Type:Bachelor Thesis
Date of Publication (online):2016/08/09
Publishing Institution:Hochschule Aalen
Granting Institution:Hochschule Aalen, Optik und Mechatronik
Release Date:2016/08/10
Tag:albinism; genes; low vision; melanin; vision therapy
Number of Pages:83 Seiten
Faculty:Optik und Mechatronik
Open Access:Open Access
Licence (German):License LogoVer√∂ffentlichungsvertrag f√ľr Publikationen mit Print on Demand