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Article

CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.

Retina (Philadelphia, Pa.) - 1 Dec 2019

Collison Frederick T, Lee Winston, Fishman Gerald A, Park Jason C, Zernant Jana, McAnany J Jason, Allikmets Rando

Abstract excerpt

PURPOSE: To investigate the Stargardt disease phenotype associated with an unusually common and "extremely hypomorphic" ABCA4 variant, p.N1868I. METHODS: The 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...

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Identifiers

PMID: 30204727
DOI: 10.1097/IAE.0000000000002316
PMCID: PMC6548695

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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