title: The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience.
abstract: BACKGROUND
  The Inborn Errors of Metabolism (IEM) are far from the rare systemic diseases that mainly affect the neural tissue. There are very few written reports on ocular findings in subjects with IEM, thus it was interesting to study the frequency of ocular findings in the studied population and explore their contribution to the early diagnosis of IEM.
  
  
  METHODS
  Our study involved the evaluation of IEM suspected cases, which had been identified in a rural population in Crete, Greece. Over a period of 3 years, 125 patients, who fulfilled the inclusion criteria of this study, were examined. Analytical physical examination, detailed laboratory investigation as well as a thorough ocular examination were made.
  
  
  RESULTS
  A diagnosis of IEM was established in 23 of the 125 patients (18.4%). Ten (43.5%) of the diagnosed IEM had ocular findings, while 8 of them (34.8%) had findings which were specific for the diagnosed diseases. One patient diagnosed with glycogenosis type 1b presented a rare finding. Of the 102 non-diagnosed patients, 53 (51.96 %) presented various ophthalmic findings, some of which could be related to a metabolic disease and therefore may be very helpful in the future.
  
  
  CONCLUSIONS
  The ocular investigation can be extremely useful for raising the suspicion and the establishment of an early diagnosis of IEM. It could also add new findings related to these diseases. The early management of the ocular symptoms can improve the quality of life to these patients.
authors.affiliation: Department of Opthalmology, School of Medicine, University Hospital, Crete Medical School, Crete, Greece. dotopto@med.uoc.gr
authors.forename: Daria P
authors.initials: DP
authors.lastname: Tsagaraki
authors.forename: Athanasios E
authors.initials: AE
authors.lastname: Evangeliou
authors.forename: Miltiadis
authors.initials: M
authors.lastname: Tsilimbaris
authors.forename: Martha G
authors.initials: MG
authors.lastname: Spilioti
authors.forename: Eleni P
authors.initials: EP
authors.lastname: Mihailidou
authors.forename: Christos
authors.initials: C
authors.lastname: Lionis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Pallikaris
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003941:Diagnostic Techniques, Ophthalmological; D005128:Eye Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology; D005260:Female; D006115:Greece / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology; D010865:Pilot Projects; D012424:Rural Population / Q000706:statistics & numerical data