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Purpose: Based on studies on the pathogenesis of Leber's hereditary optic neuropathy (LHON), mitochondrial DNA (mtDNA) mutations have been divided into two types: primary and secondary. Primary mutations at nucleotide positions (nt) 11778, 3460, and 14484 can each cause LHON. Secondary mutations...
We report an unusual case of a two-year-old girl with metastatic retinoblastoma and massive bone marrow involvement who showed the overt presence of circulating retinoblastoma cells in peripheral blood smears a few days before death. This extended disease developed after an early relapse that...
Purpose: To identify possible correlations between the putative mutations and the clinical characteristics in X-linked retinitis pigmentosa, RP2. Design: A retrospective, descriptive clinical study. Material: The ophthalmological files on affected persons from three Danish families with...
Purpose: To determine the rate of retinal detachment after treatment of retinoblastoma, to describe the clinical features and management, and to discuss possible pathogenic mechanisms. Methods: We retrospectively analyzed the charts of 80 patients (83 eyes) with retinoblastoma treated...
Objective: To define a subgroup of patients with retino-blastoma and low risk of extraocular relapse through histopathological and clinical variables. Patients and methods: Inclusion criteria consisted of stage I (intraocular disease), stage IIb1 (without concomitant choroid and/or scleral...
A 2.5-year-old male infant with agenesis of the corpus callosum and Leber's congenital amaurosis is described. The infant had nystagmus as the presenting sign. The fundi showed circumscribed macular atrophy with encircling retinal pigment epithelial hyperplasia (macular coloboma-like lesions),...
Purpose: Mutations in the gene encoding rhodopsin, the visual pigment in rod photoreceptors, were shown to be the most common cause of autosomal retinitis pigmentosa (RP). In order to determine the prevalence of rhodopsin alterations in southern French populations, we examined 52 unrelated...
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