title: [SD-OCT contribution in congenital achromatopsia diagnosis (6 patients)].
abstract: OBJECTIVE
  Achromatopsia (ACH) is a congenital autosomal recessive cone disorder. The puspose is to describe particular SD-OCT macular images in ACH.
  
  
  METHODS
  The study included 6 patients from 3 consanguineous Tunisian families with congenital nystagmus and amblyopia with ACH. All patients had clinical examination with fundus photography, autofluorescence, 100-Hue Color vision and the appearance and thickness of all retinal layers were evaluated by spectral-domain optical coherence tomography (SD-OCT).
  
  
  RESULTS
  All patients had ACH. The feature was loss of inner- and outer-segments (IS/OS) with disruption of the ciliary layer on OCT and an appearance of partial-thickness hole in the outer macular retina.
  
  
  CONCLUSIONS
  This feature seems to be characteristic of ACH. SD-OCT correlated to clinic signs help the diagnosis.
authors.affiliation: Unité de recherche en oculo-génétique UR17/04, service d'ophtalmologie B, institut Hédi-Rais, boulevard 9-Avril, 1006 Tunis, Tunisie. Electronic address: larguechel@yahoo.fr.
authors.forename: L
authors.initials: L
authors.lastname: Largueche
authors.affiliation: Unité de recherche en oculo-génétique UR17/04, service d'ophtalmologie B, institut Hédi-Rais, boulevard 9-Avril, 1006 Tunis, Tunisie.
authors.forename: A
authors.initials: A
authors.lastname: Chebil
authors.affiliation: Unité de recherche en oculo-génétique UR17/04, service d'ophtalmologie B, institut Hédi-Rais, boulevard 9-Avril, 1006 Tunis, Tunisie.
authors.forename: M
authors.initials: M
authors.lastname: Bouladi
authors.affiliation: Unité de recherche en oculo-génétique UR17/04, service d'ophtalmologie B, institut Hédi-Rais, boulevard 9-Avril, 1006 Tunis, Tunisie.
authors.forename: R
authors.initials: R
authors.lastname: Bouraoui
authors.affiliation: Unité de recherche en oculo-génétique UR17/04, service d'ophtalmologie B, institut Hédi-Rais, boulevard 9-Avril, 1006 Tunis, Tunisie.
authors.forename: F
authors.initials: F
authors.lastname: Kort
authors.affiliation: Unité de recherche en oculo-génétique UR17/04, service d'ophtalmologie B, institut Hédi-Rais, boulevard 9-Avril, 1006 Tunis, Tunisie.
authors.forename: H
authors.initials: H
authors.lastname: Charfi
authors.affiliation: Unité de recherche en oculo-génétique UR17/04, service d'ophtalmologie B, institut Hédi-Rais, boulevard 9-Avril, 1006 Tunis, Tunisie.
authors.forename: L
authors.initials: L
authors.lastname: El Matri
mesh_terms: D000293:Adolescent; D002648:Child; D003117:Color Vision Defects / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D041623:Tomography, Optical Coherence; D055815:Young Adult
keywords: Achromatopsia; Achromatopsie; Hereditary maculopathy; Maculopathie héréditaire; Optical coherence tomography; Tomographie en cohérence optique