title: [Clinical and angiographic characteristics of Bietti's corneoretinal dystrophy: a case study of an 8-year-old girl].
abstract: BACKGROUND
  Bietti's crystalline corneoretinal dystrophy is a tapetoretinal degeneration, characterized by the presence of refringent crystals in the corneal limbus and the retina with sclerosis of choroidal vessels. We report the clinical and angiographic features of an 8-year-old girl affected with Bietti's crystalline dystrophy.
  
  
  METHODS
  This 8-year-old girl was a sporadic case, born of consanguineous parents. She was referred to our hospital for intermittent strabismus. Her visual acuity was 4/10 at the right eye and 3/10 at the left eye. Biomicroscopy revealed very fine crystals in the limbal area bilaterally. Mydriatic funduscopic examination showed bilateral macular pigment mottling and depigmentation, numerous tiny refractile yellow dots scattered throughout the posterior pole and the mid-periphery associated with diffuse retinal pigment epithelial atrophy and pigment accumulation. Fluorescein angiography revealed retinal pigmentary epithelium alterations. Indocyanine green (Infracyanin) angiography showed areas of choroidal atrophy. The electroretinogram noted a reduction in the number of both types of photoreceptors.
  
  
  CONCLUSIONS
  Ophthalmological lesions normally occur between 20 and 30 years of age. The particularity of our case report is the manifestation of the disease at an earlier age (8 years). The progression is characterized by a centrifuge expansion of lesions.
authors.affiliation: Service d'Ophtalmologie B, Institut Hedi Rais, Tunis, Tunisia. famag22@yahoo.fr
authors.forename: N
authors.initials: N
authors.lastname: Chaker
authors.forename: F
authors.initials: F
authors.lastname: Mghaieth
authors.forename: R
authors.initials: R
authors.lastname: Baccouri
authors.forename: A
authors.initials: A
authors.lastname: Merdassi
authors.forename: F
authors.initials: F
authors.lastname: Turki
authors.forename: L
authors.initials: L
authors.lastname: El Matri
mesh_terms: D017668:Age of Onset; D001284:Atrophy; D002648:Child; D002829:Choroid / Q000098:blood supply / Q000000981:diagnostic imaging / Q000473:pathology; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000000981:diagnostic imaging / Q000473:pathology*; D003460:Crystallization; D018450:Disease Progression; D004596:Electroretinography; D004948:Esotropia / Q000209:etiology; D005260:Female; D005451:Fluorescein Angiography; D005456:Fluorescent Dyes; D006801:Humans; D007208:Indocyanine Green; D016850:Limbus Corneae / Q000648:ultrastructure; D033401:Microscopy, Acoustic; D009030:Mosaicism; D010857:Pigment Epithelium of Eye / Q000473:pathology; D011859:Radiography; D012174:Retinitis Pigmentosa / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D014424:Turner Syndrome / Q000235:genetics; D014792:Visual Acuity
chemical_list: D005456:Fluorescent Dyes; D007208:Indocyanine Green