Colour discrimination ellipses in patients with dominant optic atrophy
نویسندگان
چکیده
Many colour tests require a visual acuity of at least 0.1, making them unsuitable for low vision patients. To assess colour vision in patients with sub-normal acuity, we re-designed a previously described test so that its spatial details would be coarse enough to be resolvable by subjects with severe visual impairment. The test measures chromatic discrimination along 20 axes evenly spaced in CIE 1976 L*u*v* colour space. We detail the results for this test in a group of patients with dominant optic atrophy. Despite the lack of evidence for genetic heterogeneity in dominant optic atrophy, we observed phenotypic variation both between and within families.
منابع مشابه
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.
Dominant optic atrophy (DOA) is the most common form of autosomally inherited optic neuropathy. The disease typically presents in childhood with slow bilateral loss of visual acuity, visual field defects, abnormal colour discrimination, and pallor of the optic discs. The majority of DOA families published to date have shown linkage to a major locus on chromosome 3q28 (OPA1). The OPA1 gene was r...
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ورودعنوان ژورنال:
- Vision Research
دوره 38 شماره
صفحات -
تاریخ انتشار 1998