title: Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.
abstract: OBJECTIVE
  To describe a distinctive foveal cavitation as seen by spectral-domain optical coherence tomography in certain cone dysfunction syndromes.
  
  
  METHODS
  Observational case series. Patients were evaluated by dilated fundus examination, fundus photography, fundus autofluorescence, full-field electroretinogram, multifocal electroretinogram, spectral-domain optical coherence tomography, color vision testing, fluorescein angiography, Goldmann visual field testing, and molecular genetic analysis.
  
  
  RESULTS
  We present eight patients with foveal cavitation in association with presumed cone dysfunction. This was characterized on spectral-domain optical coherence tomography by a gap in the subfoveal outer segment layer without more diffuse retinal thinning. There were 5 patients of age 10 years to 27 years and 3 patients of age 49 years to 52 years, with a 1.5- to 38-year history of bilateral visual loss. A small foveal oval-shaped area of reduced foveal fundus autofluorescence, surrounded by increased fundus autofluorescence, was seen in the younger patients, and a broad circle of increased fundus autofluorescence in the older patients. The multifocal electroretinogram always showed central amplitude reduction, but there were varying degrees of cone dysfunction on full-field electroretinogram. There were mild abnormalities on desaturated color vision testing. The family history was noncontributory in all cases. None of the cases were congenital. ABCA4 gene mutations were identified in three of five patients tested; CNGB3 testing was negative in these patients.
  
  
  CONCLUSIONS
  Cone dysfunction syndromes typically show retinal thinning on optical coherence tomography imaging, although several case reports have noted focal outer retinal loss. Our case series shows that a distinctive optical coherence tomography finding, foveal cavitation, may be a clue to cone dysfunction syndromes, but is not specific to any one hereditary disorder or age group.
authors.affiliation: Department of Ophthalmology, Stanford University School of Medicine, Stanford, California, USA. tedleng@stanford.edu
authors.forename: Theodore
authors.initials: T
authors.lastname: Leng
authors.forename: Michael F
authors.initials: MF
authors.lastname: Marmor
authors.forename: Ulrich
authors.initials: U
authors.lastname: Kellner
authors.forename: Dorothy A
authors.initials: DA
authors.lastname: Thompson
authors.forename: Agnes B
authors.initials: AB
authors.lastname: Renner
authors.forename: William
authors.initials: W
authors.lastname: Moore
authors.forename: Jane C
authors.initials: JC
authors.lastname: Sowden
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D003117:Color Vision Defects / Q000175:diagnosis; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000473:pathology*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D041623:Tomography, Optical Coherence; D055815:Young Adult
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; C415904:CNGB3 protein, human; D054815:Cyclic Nucleotide-Gated Cation Channels; C418975:ELOVL4 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins