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Biomedical subjects

Stephanie Hagstrom

Publications and source records attributed to Stephanie Hagstrom.

2 recordsLinked to original sources
PubMed2004

Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.

PURPOSE: To present long-term follow-up on a North American patient with Leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene. DESIGN: Case report. METHODS: RPE65 mutation screening and search for sequence changes using Single Strand Conformation Polymorphism and direct DNA sequencing. Ophthalmic examination and electrophysiologic testing. RESULTS: A 35-year-old female carried two RPE65 mutations: a maternal 961A>T (K303X) nonsense mutation and a paternal 1346A>G (Y431C) missense mutation. She had severe visual deficits and an absence of rod and cone Electroretinogram responses. Visual acuity of 20/60 both eyes and normal color recognition during early childhood declined to 2/200 in the right eye and 1/200 in the left eye at the age of 35. CONCLUSIONS: The RPE65 mutations K303X and Y431C in compound heterozygous form cause progressive visual compromise that starts in childhood and advances to severe visual loss by the fourth decade of life.

Adult↗
PubMed2004

Color vision testing.

The science of color vision testing has evolved since its inception in the late 1700s. Since then, the rudimentary technique of comparing color names has been replaced by more sophisticated methods. Commonly used tests in clinical practice today include isochromatic plates, arrangement tests, anomaloscopes, and lantern tests. Each category has unique attributes that make it suitable for a particular clinical situation. The clinician should be aware of the requirements for administering and grading each test type. Factors such as the quality of the illuminant and the size of the field of view are important elements in setting up a proper color vision laboratory. Currently, no treatment exists for congenital color vision defects. However, studies show that diagnosis of these defects early in life may help children adjust better to tasks at school and may help adults understand their limitations at work. Acquired color vision defects are often used as markers of ocular pathology in the clinical setting. Different color vision tests are appropriate for diagnosing the different categories of defects. Sometimes, a battery of tests may be appropriate. This paper is a review of the current knowledge in the field of color vision testing.

Color Perception↗