Publicação
New Therapeutic Approaches in Achromatopsia
| Resumo: | Abstract Introduction: Achromatopsia (ACHM) causes debilitating photophobia and low vision, impairing quality of life and causing psychological distress. While optical filters are standard, their impact on mental well-being is poorly documented. This study evaluates the impact of filtered contact lenses on visual function, vision-related quality of life and anxiety in ACHM patients. Methods:Prospective, longitudinal, and interventional study including patients (≥13 years) with genetically confirmed ACHM recruited from the IRD-PT (retina.com.pt) registry. Demographic, clinical, and genetic data were retrieved from the national database. Baseline evaluation included best-corrected visual acuity (BCVA), contrast sensitivity and reading speed under controlled mesopic (10 Lux) and photopic (600 Lux) conditions. Eyelid aperture was measured as an objective marker of photophobic response. Participants completed the Portuguese versions of the Michigan Retinal Degeneration Questionnaire (MRDQ) and the Michigan Vision-related Anxiety Questionnaire (MVAQ). Following this initial assessment, patients received tinted contact lenses and clinical parameters were reassessed. After a period of two weeks, we re-evaluated the psychosocial scores. These results were then combined to determine the intervention's impact. Results: Ten patients (mean age 36.5±4.9 years) were included, with 90% carrying CNGA3 or CNGB3 mutations. The intervention significantly improved reading speed under both mesopic and photopic conditions (ρ=0.005). There was an increase in BCVA but it did not reach a statistical significance in both luminance conditions (ρ=0.434, ρ=0.373). MRDQ scores revealed significant functional improvements in Central Vision (CV) (ρ=0.029), Contrast Sensitivity (CNT) (ρ=0.028), Photopic Peripheral Function (PF) (ρ=0.024), and Photosensitivity (PS) (ρ=0.024). Anxiety scores (ACF) showed a non-significant reduction (ρ=0.204), suggesting that psychological adaptation may require a longer follow-up period than functional recovery. Conclusion:Filtered contact lenses are a changing rehabilitative tool for ACHM, significantly enhancing functional visual efficiency and visual comfort. The synergy between objective clinical gains (reading speed and photoaversion) and improved patient-reported outcomes (CV, CNT, PF and PS) underscores the potential of this discreet intervention to mitigate the debilitating barriers of daylight vision and improve the vision-related quality of life. |
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| Autores principais: | Cruz, Mariana Lacerda de Oliveira Pereira da |
| Assunto: | Achromatopsia Visual Rehabilitation Photophobia Low Vision Acromatópsia Reabilitação visual Fotofobia Baixa Visão |
| Ano: | 2026 |
| País: | Portugal |
| Tipo de documento: | dissertação de mestrado |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Universidade de Coimbra |
| Idioma: | inglês |
| Origem: | Estudo Geral - Universidade de Coimbra |
| Resumo: | Abstract Introduction: Achromatopsia (ACHM) causes debilitating photophobia and low vision, impairing quality of life and causing psychological distress. While optical filters are standard, their impact on mental well-being is poorly documented. This study evaluates the impact of filtered contact lenses on visual function, vision-related quality of life and anxiety in ACHM patients. Methods:Prospective, longitudinal, and interventional study including patients (≥13 years) with genetically confirmed ACHM recruited from the IRD-PT (retina.com.pt) registry. Demographic, clinical, and genetic data were retrieved from the national database. Baseline evaluation included best-corrected visual acuity (BCVA), contrast sensitivity and reading speed under controlled mesopic (10 Lux) and photopic (600 Lux) conditions. Eyelid aperture was measured as an objective marker of photophobic response. Participants completed the Portuguese versions of the Michigan Retinal Degeneration Questionnaire (MRDQ) and the Michigan Vision-related Anxiety Questionnaire (MVAQ). Following this initial assessment, patients received tinted contact lenses and clinical parameters were reassessed. After a period of two weeks, we re-evaluated the psychosocial scores. These results were then combined to determine the intervention's impact. Results: Ten patients (mean age 36.5±4.9 years) were included, with 90% carrying CNGA3 or CNGB3 mutations. The intervention significantly improved reading speed under both mesopic and photopic conditions (ρ=0.005). There was an increase in BCVA but it did not reach a statistical significance in both luminance conditions (ρ=0.434, ρ=0.373). MRDQ scores revealed significant functional improvements in Central Vision (CV) (ρ=0.029), Contrast Sensitivity (CNT) (ρ=0.028), Photopic Peripheral Function (PF) (ρ=0.024), and Photosensitivity (PS) (ρ=0.024). Anxiety scores (ACF) showed a non-significant reduction (ρ=0.204), suggesting that psychological adaptation may require a longer follow-up period than functional recovery. Conclusion:Filtered contact lenses are a changing rehabilitative tool for ACHM, significantly enhancing functional visual efficiency and visual comfort. The synergy between objective clinical gains (reading speed and photoaversion) and improved patient-reported outcomes (CV, CNT, PF and PS) underscores the potential of this discreet intervention to mitigate the debilitating barriers of daylight vision and improve the vision-related quality of life. |
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