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Article

Upward saccadic intrusions as the presenting feature for incomplete congenital stationary night blindness.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Feb 2023

Aghazadeh Helya, MacDonald Ian M, Jivraj Imran

Abstract excerpt

We describe the case of a 9-month-old boy presenting with isolated intermittent vertical eye movements most in keeping with upward saccadic pulses, a form of saccadic intrusions. Full-field electroretinogram was consistent with a generalized retinal dystrophy, and genetic testing revealed a hemizygous pathogenic mutation in the CACNA1F gene, confirming the diagnosis of incomplete congenital stationary night...

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Source

Identifiers

PMID: 36567043
DOI: 10.1016/j.jaapos.2022.09.011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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