Aims: To study the relative occurrence of uveitis (intraocular inflammation) and its causes in children and adolescents. Methods: Patients with uveitis examined and followed during a period of 10 years were categorised by age and sex. All underwent ocular examination and an individually tailored battery of laboratory tests. The intraocular manifestations were classified according to the anatomical location of the inflammation and their most probable cause. The final diagnosis was based on typical clinical ocular and extraocular symptoms and signs and on the results of specific laboratory investigations. Results: Out of 821 patients, 276 (33.1%) were 18 years of age or younger with a male to female ratio of 1 to 1. In these 276 children and adolescents, 70.3% had bilateral ocular involvement. Intermediate uveitis was the most frequent anatomical diagnosis. In many cases, symptoms were mild despite the prominent signs and marked decrease of vision. The underlying cause for the uveitis was evaluated as non-infectious in 184 cases (66.7%) and infectious in 92 cases (33.3%). A potential aetiology and/or a definite clinical diagnosis were established in 74.6% of the cases and only 25.4% of the 276 patients were classified as idiopathic. Juvenile idiopathic arthritis (JIA) was the most common systemic disease association diagnosed in 14.9% of these children. Parasite infestation was the most common infectious association. Conclusions: Uveitis in children and adolescents is not as low as previously reported. Parasite infestation on the one hand and JIA on the other hand are the most common aetiologies associated with the uveitis in these young patients.
An extended, highly consanguineous Israeli Bedouin family with at least 20 individuals exhibiting a unique phenotype of oculocutaneous albinism (OCA) was identified. All known OCA genes were excluded in this family. Electron microscopic analysis of platelets revealed absence of dense bodies, suggesting a diagnosis of Hermansky-Pudlak syndrome (HPS). HPS is a rare autosomal recessive disorder of lysosome-related organelle biogenesis, clinically characterized by OCA and platelet dysfunction, sometimes accompanied by other systemic pathologies. All human HPS genes (HPS1-8) and five genes corresponding to murine HPS models were evaluated. Haplotype analysis and homozygosity mapping of the HPS loci revealed linkage to chromosome 10 in the studied family. Subsequently, a novel insertion mutation, c.1066-1067insG was identified in HPS6. Most frameshift mutations generating premature termination codon cause mRNA nonsense mediated decay (NMD), while intronless genes like HPS6 are usually not monitored by NMD. Expression analysis revealed no mRNA decay in patient's fibroblasts, hence truncated protein is most probably produced. Confocal microscopy revealed abnormal distribution of LAMP-3 (lysosomal associated membrane protein-3) in fibroblasts from the patients, indicating abnormal trafficking of lysosomal lineage organelles. So far, a single HPS-6 patient phenotypically similar to HPS-3 and HPS-5 has been identified. The HPS-6 phenotype in the studied family is unique since it resembles OCA and not HPS. Therefore, our finding broadens the phenotypic definition of HPS. Two major genetic isolates of HPS-1 and HPS-3 patients were previously diagnosed in Puerto Rico. The extended Bedouin family is the largest isolate of non-Puerto Rican HPS patients.
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