The eye in metabolic diseases: clues to diagnosis

Ophthalmologic manifestations occur in various inborn errors of metabolism (IEM), including small molecule disorders and organelle disorders. In a minority of diseases the occurrence of eye abnormalities could be attributed to direct toxic mechanisms of abnormal metabolic products or accumulation of normal metabolites by errors of synthetic pathways or by deficient energy metabolism. The age of onset of ocular abnormalities in IEM is variable, but onset often begins from birth to childhood. The major IEM associated with eye abnormalities include errors of lipid metabolism, carbohydrate metabolism, protein metabolism, and metal metabolism. IEM disorders with ocular motor manifestations include lipid storage diseases, neurotransmitter disorders and respiratory chain disorders. The purpose of this article is to describe ocular phenotypes associated with IEM, focusing on those diseases in which the ocular involvement is seen relatively early in the course of the disease. As therapeutic approaches become available for certain groups of IEM, the need for early diagnosis is increasingly importan

The Peters' plus syndrome: a review

Peters' plus syndrome is an infrequently described entity that combines anomalies in the anterior chamber of the eye with other multiple congenital anomalies, and a developmental delay. Major symptoms are extremely variable anterior chamber anomalies, cupid bow of the upper lip, cleft lip and palate, short stature, broad hands and feet, and variable mental delay. The syndrome follows an autosomal recessive pattern of inheritance. The etiology is unknown, but may involve abnormal neural crest development. A review of the pertinent literature is provided. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserve

The eye as a window to inborn errors of metabolism

Ocular manifestations in inborn errors of metabolism occur in many diseases and may be associated with any part of all eye components. In a minority of diseases it is possible to attribute the eye symptoms to a single hereditary pathogenetic mechanism. More often the aetiological relationship of the ocular defects to the metabolic disease is unknown. Diverse pathogenetic mechanisms may act via a common pathological pathway inducing ocular damage. The occurrence of eye abnormalities in metabolic disorders suggests that they are associated with direct toxic actions, errors of synthetic pathways or deficient energy metabolism. In this review, metabolic disorders with major abnormalities in the cornea, lens, retina and optic nerve are presented. In all cases, an appropriate combined approach by the ophthalmologist, paediatrician/neurologist, geneticist and clinical biochemist is the only way to diagnostic succes

Superior oblique luxation and trochlear luxation as new concepts in superior oblique muscle weakening surgery

We used superior oblique luxation and trochlear luxation as new surgical procedures to treat acquired Brown's syndrome and superior oblique muscle overaction. We studied nine patients (11 eyes) who underwent trochlear surgery between 1988 and 1993. Four patients had acquired Brown's syndrome and five had superior oblique muscle overaction. In five patients (six eyes) the trochlea was incised to luxate the superior oblique tendon out of the trochlea. In four patients (five eyes) the trochlea was luxated out of its fossa via a periosteal approach without opening the trochlea itself. The mean follow-up was 18 months (range, nine to 33 months). Postoperatively, eight patients showed subjective and objective improvement. One patient with painful traumatic acquired Brown's syndrome had no objective improvement but obtained relief of pain. These new techniques are a successful alternative in the treatment of acquired Brown's syndrome and superior oblique muscle overactio