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Refraction in Albinism
Kootz D., Käsmann-Kellner B., Löw U., Ruprecht K. W.
Purpose: Oculocutaneous and ocular albinism are known for high refraction anomaly (s.a. hyperopia, myopia magna, astigmatism). Both lesions have significant effect on the final visual acuity. So far only one gene location for ocular albinism was found, however today we know of 11 genes with 17 subtyps for oculocutaneous albinism (isolated form of the disease as well as within the scope of syndrome). It is still unknown, whether these types would be different with regard to refraction.
Method: We determined in 318 patients with ocular and oculocutaneous albinism (form 6 months of age till 84 years old) the visual acuity and the objective refraction in cycloplegia. The measurement of the objective refraction in all patients was done by skiascopy (cycloplegia in children under 5 years: 1% atropin drops, 5 years upwards: cyclopentolat-scheme: three times drops every 15 minutes, the measurement followed 20 minutes after the last application). Moreover a molecular-genetic analysis has been done for n = 242 patients. The results of these analyses have than been used to examine the correlation between molecular-genetic albinism type and refraction, as well as the correlations to visual acuity.
Results: Altogether we found spherical refractions between -20.0D and +11,5D, the astigmatical refractions ranged from 0,0D to 8,5D. OCA1 (Ty-gene-related) showed refraction values, that are significantly higher in minus range than in other types of albinism. Astigmat
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