Research article

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

Daria P Tsagaraki¹ , Athanasios E Evangeliou³ , Miltiadis Tsilimbaris¹ , Martha G Spilioti³ , Eleni P Mihailidou² , Christos Lionis⁴ and Ioannis Pallikaris¹

¹  Department of Opthalmology, School of Medicine, University Hospital of Crete Medical School, Crete, Greece

²  Department of Pediatrics Pediatrics, School of Medicine, University Hospital of Crete Medical School, Crete, Greece

³  Department of Neurology, School of Medicine, University Hospital of Crete Medical School, Crete, Greece

⁴  Clinic of Social and Family Medicine, School of Medicine, University Hospital of Crete Medical School, Crete, Greece

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BMC Ophthalmology 2002, 2:2doi:10.1186/1471-2415-2-2

Published:	11 April 2002

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.