title: Ocular manifestations and visual functions in patients with Fanconi anaemia.
abstract: OBJECTIVE
  Fanconi anaemia (FA) is a multisystemic disorder with ocular implications. This study aims to describe visual function, ocular characteristics and visual processing skills in patients with FA after haematopoietic stem cell transplantation.
  
  
  METHODS
  Ten patients with FA, ages 8-17 years, underwent ophthalmological examinations, corneal, periocular and fundus photography, visual evoked potentials (VEPs), visual fields and ocular motor and visual processing information tests.
  
  
  RESULTS
  Best-corrected decimal visual acuity was ≥0.65 in all 20 eyes. Microcornea was present in 18 of 18 eyes, short axial lengths in six of six eyes, steep corneal curvatures in four of six eyes, ptosis in 14 of 16 eyes, short palpebral fissures in 15 of 16 eyes and hypotelorism in three of seven patients. Optic disc areas were smaller in patients with FA compared to controls (p = 0.0003 right, p = 0.0003 left eye). Visual fields were abnormal in 4 of 18 eyes, while VEP was abnormal in 1 of 20 eyes. Eight patients had ocular motor dysfunction, while nine of 10 patients showed delay in visual processing skills.
  
  
  CONCLUSIONS
  Patients with FA can present with microcornea, microphthalmia, ptosis, steep corneal curvatures, small optic discs, ptosis and delay in visual processing skills. Detailed ophthalmological and visual processing skills assessments and developmental investigations are important to detect impairments and facilitate appropriate support.
authors: Department of Clinical Neuroscience, Karolinska Institutet and St. Erik Eye Hospital, Stockholm, SwedenDepartment of Clintec, Karolinska Institutet, Karolinska University Hospital, Huddinge, Stockholm, SwedenDepartment of Paediatrics, Karolinska University Hospital, Huddinge, Stockholm, Sweden.
authors: Alba Lucia
authors: AL
authors: Törnquist
authors: Lene
authors: L
authors: Martin
authors: Jacek
authors: J
authors: Winiarski
authors: Kristina Teär
authors: KT
authors: Fahnehjelm
mesh_terms: D000293:Adolescent; D001763:Blepharoptosis / Q000175:diagnosis; D002648:Child; D003315:Cornea / Q000002:abnormalities; D005074:Evoked Potentials, Visual / Q000502:physiology; D005128:Eye Diseases / Q000175:diagnosis*; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis; D009898:Optic Disk / Q000002:abnormalities; D010468:Perceptual Disorders / Q000175:diagnosis*; D014786:Vision Disorders / Q000175:diagnosis*; D014796:Visual Perception
keywords: Fanconi anaemia; microcornea; optic nerve hypoplasia; ptosis; visual processing skills