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Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing.

Authors
  • Galindo-Bocero, J1
  • Macías-Franco, S2
  • García-González, N3
  • Valles-Antuña, C4
  • Hernando Acero, I3
  • Rozas-Reyes, P2
  • 1 Servicio de Oftalmología, Fundación Hospital de Jove, Gijón, Asturias, España. Electronic address: [email protected]
  • 2 Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
  • 3 Unidad de Genética, Área de Gestión Clínica de Pediatría, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
  • 4 Servicio de Neurofisiología Clínica, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
Type
Published Article
Journal
Archivos de la Sociedad Espanola de Oftalmologia
Publication Date
Dec 01, 2020
Volume
95
Issue
12
Pages
607–610
Identifiers
DOI: 10.1016/j.oftal.2020.06.004
PMID: 32680768
Source
Medline
Keywords
Language
Spanish
License
Unknown

Abstract

A 4-year-old boy, with no history of relevance, presented with bilateral visual impairment, more so in scotopic conditions, and did not improve with optical correction. No significant funduscopic abnormalities were seen, leading to a suspicion of retinal dystrophy. Sequencing of the CACNA1F gene detected the c.3081C>A (p.Tyr1027Ter) mutation, which had occurred de novo in the patient's mother. This mutation, in the aforementioned clinical context, and with a compatible electronegative pattern, establishes the diagnosis of X-linked type 2 congenital stationary night blindness. Electrophysiology and genetic testing should be part of the diagnostic protocol for any unexplained loss of vision in children. The description, nomenclature and classification of hereditary retinal dystrophies based on their genotypic and electroretinograpic characteristics, avoids diagnostic errors due to their usual clinical and phenotypic overlap. Copyright © 2020 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

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