[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder].

In three young patients who presented with bilateral cataracts the cause proved to be an inherited metabolic disease. The first patient was a newborn aged 7 weeks, in whom galactokinase deficiency was diagnosed. The second patient was a boy aged 8 years with cerebrotendinous xanthomatosis.

Implantation of the Artisan iris reconstruction intraocular lens in 5 children with aphakia and partial aniridia caused by perforating ocular trauma.

Purpose: To describe the long-term clinical results of the implantation of the Artisan iris reconstruction IOL in 5 eyes of 5 children for aphakia and partial aniridia attributable to penetrating ocular trauma.

Methods: The charts of 5 children were retrospectively reviewed. The nature and the extent of injury; age at IOL implantation; visual, refractive, and cosmetic outcome; endothelial cell density; and complications and subsequent surgical interventions were evaluated.

Traumatic pediatric cataract: a decade of follow-up after Artisan aphakia intraocular lens implantation.

Purpose: To describe the long-term clinical outcome of Artisan((R)) aphakia intraocular lens (IOL; Ophtec, Groningen, The Netherlands) implantation in five aphakic eyes of five children, without capsular support, after cataract extraction following penetrating ocular trauma.

Methods: The charts of the five children were retrospectively reviewed. The data collected included follow-up time, nature of injury, age at cataract extraction and IOL implantation, visual outcome, endothelial cell counts, complications, and subsequent surgical interventions.

High tolerance for oral galactose in classical galactosaemia: dietary implications.

Aim: To study the relevance of restricting the exogenous intake of small amounts of galactose, such as from fruit and vegetables, in patients with classical galactosaemia.

Methods: For a period of six weeks, increasing doses of oral galactose to a maximum of 600 mg per day, were added to a very strict galactose restricted diet in three adolescent patients homozygous for the Q188R mutation. During the study, physical examination, including an extended ophthalmic examination, and laboratory studies were performed on a weekly basis.

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

The peroxisome biogenesis disorders (PBDs) with generalized peroxisomal dysfunction include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). There is clinical, biochemical, and genetic overlap among the three phenotypes, also known as Zellweger spectrum disorders. Clinical distinctions between the phenotypes are not sharply defined.