The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience

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 thei...

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Bibliographic Details
Published in:	BMC ophthalmology Vol. 2; no. 1; p. 2
Main Authors:	Tsagaraki, Daria P, Evangeliou, Athanasios E, Tsilimbaris, Miltiadis, Spilioti, Martha G, Mihailidou, Eleni P, Lionis, Christos, Pallikaris, Ioannis
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 11-04-2002 BioMed Central BMC
Subjects:	Adolescent Adult Child Child, Preschool Diagnostic Techniques, Ophthalmological Eye Diseases - diagnosis Eye Diseases - epidemiology Eye Diseases - etiology Female Greece - epidemiology Humans Incidence Infant Infant, Newborn Male Metabolism, Inborn Errors - complications Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - epidemiology Pilot Projects Rural Population - statistics & numerical data Greece
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Summary:	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. 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. 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. 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1471-2415 1471-2415
DOI:	10.1186/1471-2415-2-2