Vision-related quality of life, photoaversion, and optical rehabilitation in achromatopsia.

SIGNIFICANCE: We report on photoaversion and patient-reported quality of life in Danish patients with achromatopsia and evaluate the best optical rehabilitation. Our results contribute to the evaluation of outcome measures in therapy trials and aid in providing the best optical rehabilitation for patients with this and clinically similar conditions. PURPOSE: This study aimed to investigate the vision-related quality of life, the impact of photoaversion on daily living, and the best optical rehabilitation in a cohort of achromatopsia patients, including testing the hypothesis that red light-attenuating filters are generally preferred. METHODS: Patients with genetically verified achromatopsia were recruited. Investigations included the 25-item Visual Function Questionnaire and supplementary questions regarding photoaversion and visual aids. Patients were evaluated by a low vision optometrist and given the choice between different light-attenuating filters. First, two specially designed red and gray filters both transmitting 6% light, and then a pre-defined broader selection of filters. Best-corrected visual acuity and contrast sensitivity were measured without filters and with the two trial filters. RESULTS: Twenty-seven patients participated. Median 25-item Visual Function Questionnaire composite score was 73, with the lowest median score in the subscale near vision (58) and the highest in ocular pain (100). The majority of patients (88%) reported that light caused them discomfort, and 92% used aid(s) to reduce light. Ninety-six percent (26 of 27) preferred the gray filter to the red indoors; 74% (20 of 27) preferred the gray filter. Contrast sensitivity was significantly better with the gray filter compared with no filter (p=0.003) and the red filter (p=0.002). CONCLUSIONS: Our cohort has a relatively high vision-related quality of life compared with other inherited retinal diseases, but photoaversion has a large impact on visual function. Despite what could be expected from a theoretical point of view, red filters are not generally preferred.

Acromatopsia com ambliopia: a propósito de 3 casos / Achromatopsia with amblyopia: apropos of 3 cases

Apresenta-se, para registro, dois casos comprovados de acromatopsia com ambliopia e reporta-se a um terceiro, de diagnóstico presuntivo e retrospectivo. Esses casos pertencem ao acervo do Instituto Penido Burnier. Trata-se de condiçäo rara, cuja ocorrência é estimada, na populaçäo geral, da ordem de 1 para 300.000. Ao ensejo, caracteriza-se a afecçäo que se define particularmente por: acromatopsia, ambliopia, fotofobia e nistagmo. As coordenadas para o diagnóstico diferencial säo analisadas. Considera-se também a patogenia, os achados histológicos, bem como os procedimentos terapêuticos plausíveis para diminuir o desconforto dos pacientes e permitir-lhes o aprendizado