Publications by authors named "Joanne E Sutherland"

Aims/purpose: To investigate Leber congenital amaurosis (LCA) patients' expectations, decision-making processes and gene therapy-related concerns.

Methods: Using a qualitative approach, we explored perceptions of gene therapy and clinical trials among individuals with LCA. Young adults with a clinical diagnosis of LCA were recruited through the Ocular Genetics Programme at the Hospital for Sick Children.

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Background: Two-thirds of retinoblastoma cases are unilateral, with most presenting with an advanced stage of disease. Primary enucleation is usually the preferred treatment. Conservative therapy may save less involved eyes.

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Purpose Of Review: To introduce the issues specific to the genetic counseling profession for genetic eye diseases.

Recent Findings: To discuss current issues in ocular genetic counseling including the use of a focused ophthalmology pedigree, informed consent in the blind population, genetic testing trends and psychosocial issues.

Summary: Introduce the time-consuming issues to be addressed in genetic counseling for genetic eye disease patients.

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