ArticleInternational ophthalmology2025
Psychosocial observations in ocular genetics consultations: from genetic diagnosis to rehabilitation.
Article in International ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionIndividuals with genetic eye diseases (GED) experience low quality of life and elevated levels of anxiety and depression, in addition to frequently attending ocular genetics consultations. This study aims to investigate the psychosocial aspects experienced by patients with GED during these consultations.
methodThis was a review of multidisciplinary records based on the ethnographic method of direct observations conducted by a geneticist and a psychologist. Descriptive analysis was used for quantitative data, and inductive qualitative analysis with reflexive thematic analysis was applied.
resultsThirty-seven patients participated, with a mean age of 36.9 years (SD = 18.5), and six types of genetic eye diseases, with an average diagnosis time of 18.5 years (SD = 11.2). The four main themes raised by patients were: genetic testing and its results, non-acceptance of the disease, disease acceptance, and rehabilitation. DISCUSSION: These findings show the psychosocial experiences of individuals with GED in Brazil. Acceptance is essential for benefiting from rehabilitation and achieving psychological well-being, while non-acceptance can lead to social exclusion, anxiety, and depression. Conclusive genetic testing offers relief and guidance; inconclusive results cause frustration. Across all ages, rehabilitation fosters autonomy and emotional health. Interdisciplinary care and inclusive public policies are needed.
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