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Article

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.

American journal of ophthalmology - 1 Apr 2018

Hirji Nashila, Bradley Patrick D, Li Shuning, Vincent Ajoy, Pennesi Mark E, Thomas Akshay S, Heon Elise, Bhan Aparna, Mahroo Omar A, Robson Anthony, Inglehearn Chris F, Moore Anthony T, Michaelides Michel

Abstract excerpt

PURPOSE: To characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI) owing to confirmed mutations in CNNM4, first described as "Jalili Syndrome." DESIGN: Retrospective observational case series. METHODS: Seven patients from 6 families with Jalili Syndrome were identified at 3 tertiary referral centers. We systematically reviewed their available medical records,...

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Identifiers

PMID: 29421294
DOI: 10.1016/j.ajo.2018.01.029
PMCID: PMC5873517

Genes

CNNM4

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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