Morpho-functional analysis of Stargardt Disease for reading

Sasso, Paola; Scupola, Andrea; Silvestri, Valeria; Amore, Filippo; Abed, Edoardo; Calandriello, Luigi; Grimaldi, Gabriela; Caporossi, Aldo

doi:10.1016/j.jcjo.2016.10.015

Cited by 2 publications

(2 citation statements)

References 31 publications

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“…The combination of subjective and objective functional assessments provided useful information in our study. MP, a procedure to assess retinal sensitivity by monitoring the fundus, detected a lack of fixation stability with lower sensitivity thresholds, in keeping with previous reports (Sasso et al, 2017; Schonbach et al, 2017, 2020; Tanna et al, 2018, 2019). In addition, the severity of retinal sensitivity loss was associated with the severity of generalized retinal functional loss detected by ffERG, which suggests that the combination of subjective and objective functional assessments could explain the key symptom of poor fixation and blurred central vision often associated with peripheral functional impairment.…”

Section: Discussionsupporting

confidence: 89%

“…The most severe functional phenotype (ffERG group 3: generalized cone and rod dysfunction) showed significant progression (over 50% loss of function) during the 10-year follow-up; (Fujinami, Lois, Davidson, et al, 2013) The combination of subjective and objective functional assessments provided useful information in our study. MP, a procedure to assess retinal sensitivity by monitoring the fundus, detected a lack of fixation stability with lower sensitivity thresholds, in keeping with previous reports (Sasso et al, 2017;Schonbach et al, 2017Schonbach et al, , 2020Tanna et al, 2018Tanna et al, , 2019. In addition, the severity of retinal sensitivity loss was associated with the severity of generalized retinal functional loss detected by ffERG, which suggests that the combination of subjective c.2588G>C (p.Gly863Ala); and c.5461-10T>C) in the ProgStar study .…”

Section: Discussionsupporting

confidence: 88%

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Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1

Liu

Meng

Yang

et al. 2020

American J of Med Genetics Pt C

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Stargardt disease 1 (STGD1) is the most prevalent retinal dystrophy caused by pathogenic biallelic ABCA4 variants. Forty-two unrelated patients mostly originating from Western China were recruited. Comprehensive ophthalmological examinations, including visual acuity measurements (subjective function), fundus autofluorescence (retinal imaging), and full-field electroretinography (objective function), were performed. Next-generation sequencing (target/whole exome) and direct sequencing were conducted. Genotype grouping was performed based on the presence of deleterious variants. The median age of onset/age was 10.0 (5-52)/29.5 (12-72) years, and the median visual acuity in the right/left eye was 1.30 (0.15-2.28)/1.30 (0.15-2.28) in the logarithm of the minimum angle of resolution unit. Ten patients (10/38, 27.0%) showed confined macular dysfunction, and 27 (27/37, 73.7%) had generalized retinal dysfunction. Fifty-eight pathogenic/likely pathogenic ABCA4 variants, including 14 novel variants, were identified. Eight patients (8/35, 22.8%) harbored multiple deleterious variants, and 17 (17/35, 48.6%) had a single deleterious variant. Significant associations were revealed between subjective functional, retinal imaging, and objective functional groups, identifying a significant genotype-phenotype association. This study illustrates a large phenotypic/genotypic spectrum in a large well-characterized STGD1 cohort. A

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