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Article

Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Jun 2013

Deacon Brita S, Lowery R Scott, Phillips Paul H, Schaefer G Bradley

Abstract excerpt

We present an 11-month-old girl with congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. The association of congenital ocular motor apraxia and juvenile nephronophthisis is reviewed. The patient does not currently manifest signs of renal failure, although her mutation indicates that...

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Source

Identifiers

PMID: 23683649
DOI: 10.1016/j.jaapos.2013.02.003

Genes

NPHP1

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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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