RESUMO
PURPOSE: To describe the occurrence of atypical, bilateral detachment of the macular neuroepithelium and Klinefelter syndrome in a young patient. METHODS: Case report. RESULTS: A 20-year-old male of Chinese origin with karyotype 47,XXY presented with bilateral central neurosensory retinal detachment. There was spontaneous improvement. CONCLUSIONS: An atypical form of detachment of the macular neuroepithelium was seen in a young patient with Klinefelter syndrome. The pathophysiological mechanism is not clear. The possibility of a hormonal imbalance is discussed. A differential diagnostic consideration is central serous chorioretinopathy and a mild form of Vogt-Koyanagi-Harada syndrome. This case is of interest because of the rarity of association between Klinefelter syndrome and chorioretinal abnormalities.
Assuntos
Síndrome de Klinefelter/complicações , Descolamento Retiniano/complicações , Adulto , Diagnóstico Diferencial , Angiofluoresceinografia , Humanos , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/fisiopatologia , Masculino , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/fisiopatologiaRESUMO
We have identified, cloned and sequenced three tuf-like genes from Streptomyces ramocissimus (Sr.), the producer of the antibiotic kirromycin which inhibits protein synthesis by binding the polypeptide chain elongation factor EF-Tu. The tuf-1 gene encodes a protein with 71% amino acid residues identical to the well characterized elongation factor Tu of Escherichia coli (Ec.EF-Tu). The genetic location of tuf-1 downstream of a fus homologue and the in vitro activity of Sr.EF-Tu1 show that tuf-1 encodes a genuine EF-Tu. The putative Sr.EF-Tu2 and Sr.EF-Tu3 proteins are 69% and 63% identical to Ec.EF-Tu. Homologues of tuf-1 and tuf-3 were detected in all five Streptomyces strains investigated, but tuf-2 was found in S. ramocissimus only. The three tuf genes were expressed in E. coli and used to produce polyclonal antibodies. Western blot analysis showed that Sr.EF-Tu1 was present at all times under kirromycin production conditions in submerged and surface-grown cultures of S. ramocissimus and in germinating spores. The expression of tuf-2 and tuf-3 was, however, below the detection level. Surprisingly, Sr.EF-Tu1 was kirromycin sensitive, which excludes the possibility that EF-Tu is involved in the kirromycin resistance of S. ramocissimus.