ArticleRetina (Philadelphia, Pa.)2019
CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.
Article in Retina (Philadelphia, Pa.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Maculopathies: A Systematic Literature Review on Pathophysiology, Public Health, and Treatment.Cureus · 2024Review
- Updates on Emerging Interventions for Autosomal RecessiveJournal of clinical medicine · 2023Review
- Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.PLoS genetics · 2022Article
- Stargardt disease: Multimodal imaging: A review.Clinical & experimental ophthalmology · 2021Review
- Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.Bioscience reports · 2021Article
- Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Progress in retinal and eye research · 2020Review
- Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.Investigative ophthalmology & visual science · 2020Article
- Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- The impact of the c.5603A>T hypomorphic variant on founder mutation screening ofMolecular vision · 2020Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo investigate the Stargardt disease phenotype associated with an unusually common and "extremely hypomorphic" ABCA4 variant, p.N1868I.
methodsThe charts of 27 patients with p.N1868I on one allele and a severe/deleterious mutation on the other allele were reviewed. Subjective age of onset, best-corrected visual acuity, and stage of disease were recorded for all 27 patients, 18 of whom had multiple visits. When available, fundus photography, spectral domain optical coherence tomography, fundus autofluorescence, full-field electroretinograms, Goldmann visual fields, and fluorescein angiography were included. Five families with multiple affected members were analyzed.
resultsThe median age at symptom onset was 41.5 years, and 3 p.N1868I patients had not developed visual symptoms as of the most recent eye examination. Median best-corrected visual acuity in the better-seeing eye at baseline was 20/25, and the median duration from symptom onset to legal blindness was 25 years. The five families described in this study demonstrated clinically significant intrafamilial variability, and affected family members who did not share the p.N1868I variant had relatively more severe phenotypes.
conclusionThis study demonstrates the consistency of foveal sparing, the variation in age at onset, the intrafamilial variability, and the prognosis with regard to visual acuity in p.N1868I-associated Stargardt disease.
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