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      Management of visual disturbances in albinism: a case report

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          Abstract

          Introduction

          A number of vision defects have been reported in association with albinism, such as photophobia, nystagmus and astigmatism. In many cases only prescription sunglasses are prescribed. In this report, the effectiveness of low-vision rehabilitation in albinism, which included prescription of multiple visual aids, is discussed.

          Case presentation

          We present the case of a 21-year-old Asian woman with albinism and associated vision defects. Her problems were blurring of distant vision, glare and her dissatisfaction with her current auto-focus spectacle-mounted telescope device, which she reported as being heavy as well as cosmetically unacceptable. We describe how low-vision rehabilitation using multiple visual aids, namely spectacles, special iris-tinted contact lenses with clear pupils, and bi-level telemicroscopic apparatus devices improved her quality of life. Subsequent to rehabilitation our patient is happier and continues to use the visual aids.

          Conclusions

          Contact lenses with a special iris tint and clear pupil area are useful aids to reduce the glare experienced by albinos. Bi-level telemicroscopic apparatus telemicroscopes fitted onto our patient’s prescription spectacles were cosmetically acceptable and able to improve her distance vision. As a result these low-vision rehabilitation approaches improved the quality of life of our albino patient.

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          Most cited references8

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          Oculocutaneous albinism type 1: the last 100 years.

          Research on human albinism has been central to many of the major discoveries in human genetics. These include the first evidence that Mendel's rules of genetic segregation apply to humans, first published in 1903. Contrary to initial thought that albinism is caused by mutations in a single gene, we now know that the genetics of albinism are complex. The complexity of albinism was hinted at, in early publications, but has only recently been fully appreciated with the advent of molecular techniques. Currently, 12 different genes have been identified, that when mutated, result in a different type of albinism. Oculocutaneous albinism type 1 (OCA1), resulting from mutations of the tyrosinase gene, is genetically and biochemically the best understood type of albinism. Though much of the research in albinism has involved OCA1, there are many unanswered questions about OCA1 and albinism, in general. The next 100 yr should still provide many surprises as did the first 100 yr.
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            Retinal abnormalities in human albinism translate into a reduction of grey matter in the occipital cortex.

            Albinism is a genetic condition associated with abnormalities of the visual system. Defects in melanin production cause underdevelopment of the fovea, reduced retinal cell numbers and abnormal routing of ganglion cell nerve fibres at the optic chiasm. We examined 19 subjects with albinism and 26 control subjects to determine whether retinal abnormalities affect the structure of the visual cortex. Whole-brain, high-resolution anatomical magnetic resonance imaging volumes from each subject were obtained on a 1.5-T scanner and segmented into grey and white matter. A voxel-wise statistical comparison of grey and white matter volumes in the occipital lobes between the two groups was performed using voxel-based morphometry. Our analysis revealed a regionally specific decrease in grey matter volume at the occipital poles in albinism. The location of the decrease in grey matter corresponds to the cortical representation of the central visual field. This reduction is likely to be a direct result of decreased ganglion cell numbers in central retina in albinism.
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              Albinism: its implications for refractive development.

              Albinism involves the mutation of one or more of the genes associated with melanin synthesis and has many ramifications for vision. This study focuses on the refractive implications of albinism in the context of emmetropization. Refractive, biometric, and visual acuity data were collected for a group of 25 albino individuals that included the following: 18 oculocutaneous (13 tyrosine positive, 5 tyrosine negative); 7 ocular (2 autosomal recessive, 5 sex-linked recessive). Their age range was 3 to 51 years. All exhibited horizontal pendular nystagmus. There were no statistically significant differences relating to albino subtype for any of the measured parameters. All the subjects had reduced visual acuity (mean: 0.90, logMAR) and overall, there was a bias toward hyperopia in their refractive errors (mean: + 1.07 D). However the refractive errors of the group covered a broad range (SD: 4.67 D) and included both high myopia and high hyperopia. An axial origin to the refractive errors is implied by the high correlation between refractive errors and axial lengths. Refractive astigmatism averaged 2.37 D and was consistently with-the-rule and highly correlated with corneal astigmatism, which was also with-the-rule. Meridional analysis of the refractive data indicated that the vertical meridian for hyperopic subjects was consistently nearer emmetropia compared to their horizontal meridian. Myopic subjects showed the opposite trend. The overall refractive profile of the subjects is consistent with emmetropization being impaired in albinism. However, the refractive errors of hyperopic subjects also can be explained in terms of "meridional emmetropization." The contrasting refractive profiles of myopic subjects may reflect operational constraints of the emmetropization process.
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                Author and article information

                Journal
                J Med Case Rep
                J Med Case Rep
                Journal of Medical Case Reports
                BioMed Central
                1752-1947
                2012
                19 September 2012
                : 6
                : 316
                Affiliations
                [1 ]Optometry and Visual Science Program, School of Healthcare Sciences, Faculty of Health Sciences, Universiti Kebangsaan Malaysia, Jalan Raja Muda Abdul Aziz, 50300, Kuala Lumpur, Malaysia
                [2 ]Chung Optometry Consultant, 2-G-45, Wisma Rampai, Jalan 34/26, Rampai Town Centre, Setapak, 53300, Kuala Lumpur, Malaysia
                [3 ]Faculty of Medicine and Defence Health, National Defence University of Malaysia, Sg Besi Camp, 57000, Kuala Lumpur, Malaysia
                Article
                1752-1947-6-316
                10.1186/1752-1947-6-316
                3459795
                22992390
                e17d9f4a-2d4c-4001-add0-edf2fb9e6b46
                Copyright ©2012 Omar et al.; licensee BioMed Central Ltd.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 17 January 2012
                : 3 August 2012
                Categories
                Case Report

                Medicine
                albino,low-vision rehabilitation,telemicroscopes,special contact lenses
                Medicine
                albino, low-vision rehabilitation, telemicroscopes, special contact lenses

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