Anna Camós-Carreras, Marc Figueras-Roca, Salut Albà-Arbalat, Rafel Alcubierre, Marta Saint-Gerons, Bernardo Sánchez-Dalmau
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引用次数: 0
Abstract
Background: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary condition caused by mutations in the OPA1 gene, leading to progressive degeneration of the optic nerve fibres and subsequent visual decline. Despite advances in understanding its genetic and clinical aspects, the impact of ADOA on vision-related quality of life (VRQoL) remains poorly characterized.
Subjects/methods: This cross-sectional study aimed to evaluate VRQoL in 27 patients with molecularly confirmed ADOA using the 25-item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) and its 10-item Neuro-Ophthalmic Supplement. Clinical and structural parameters, including visual acuity, colour vision, macular volume, and ganglion cell complex thickness, were assessed to explore their association with VRQoL scores.
Results: Significant reduction in VRQoL, with mean composite scores of 74.1 (NEI-VFQ-25) and 69.9 (neuro-ophthalmic supplement) was observed. General vision, near activities, and distance activities were the most affected domains, while colour vision surprisingly scored higher than expected. Multivariate analysis revealed that best-corrected visual acuity (BCVA) to be independently associated with VFQ-25 composite (ß coefficient -66.46; p < 0.001), VFQ-25 neuroophthalmology (ß coefficient -57.13; p < 0.001) and 4 of the 12 subscales. Additionally, macular vessel density correlated with specific subscales such as dependency and colour vision.
Conclusions: These findings highlight the significant functional burden of ADOA on patients and underscore the importance of clinical parameters such as BCVA and peripapillary retinal nerve fibre layer in assessing the quality of life. The study suggests that preserving visual acuity should be a primary therapeutic target in ADOA management, as well as a key for monitoring and guiding future therapeutic interventions.
期刊介绍:
Eye seeks to provide the international practising ophthalmologist with high quality articles, of academic rigour, on the latest global clinical and laboratory based research. Its core aim is to advance the science and practice of ophthalmology with the latest clinical- and scientific-based research. Whilst principally aimed at the practising clinician, the journal contains material of interest to a wider readership including optometrists, orthoptists, other health care professionals and research workers in all aspects of the field of visual science worldwide. Eye is the official journal of The Royal College of Ophthalmologists.
Eye encourages the submission of original articles covering all aspects of ophthalmology including: external eye disease; oculo-plastic surgery; orbital and lacrimal disease; ocular surface and corneal disorders; paediatric ophthalmology and strabismus; glaucoma; medical and surgical retina; neuro-ophthalmology; cataract and refractive surgery; ocular oncology; ophthalmic pathology; ophthalmic genetics.