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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. Semi-structured interviews were conducted with ten patients and analysed following the principles of qualitative description. RESULTS Study participants were aware of ongoing gene therapy research trials and actively sought information regarding advances in ophthalmology and vision restoration. The majority of participants would enrol or were enrolled in a gene-replacement therapy trial, while a minority was ambivalent or would not enrol if provided an opportunity. Participants attributed different values to clinical trials, which influenced their willingness to participate. Intrinsic factors related to coping, adaptation to vision loss and resilience also influenced decision-making. DISCUSSION This study highlights the complex factors involved in gene-therapy-related decision-making and acts as a proponent for adopting patient-centred care strategies when counselling individuals considering gene therapy or clinical trial participation.

Genetic eye diseases (GEDs) are clinically and genetically heterogeneous. Results from molecular genetic testing are redefining the etiology and clinical spectrum of these heritable diseases, helping to explain the observed overlap in clinical phenotypes. Patients and parents benefit from DNA analysis when results confirm a diagnosis or make a diagnosis more specific. Accurate counseling can then be provided regarding the prognosis, presymptomatic diagnosis, life and family-planning issues and whether to anticipate other ocular or systemic medical problems. Patients hope that mutation identification will enable their participation in future clinical trials for treatment. Requests for molecular testing are increasing while those in the visually impaired world and the healthcare professionals who manage them wait to learn long-term results of the first human clinical trials for a GED to be treated with gene therapy, RPE65-type Leber congenital amaurosis. The advantages and disadvantages of molecular testing...

Leber congenital amaurosis (LCA) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. We sequenced the exome of an individual with LCA and identified nonsense (c.507GA, p.Trp169*) and missense (c.769GA, p.Glu257Lys) mutations in NMNAT1, which encodes an enzyme in the nicotinamide adenine dinucleotide (NAD) biosynthesis pathway implicated in protection against axonal degeneration. We also found NMNAT1 mutations in ten other individuals with LCA, all of whom carry the p.Glu257Lys variant.

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.