1/3. Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa.PURPOSE: To report a novel mutation of the ABCC6 gene in a Japanese family that had a case of pseudoxanthoma elasticum (PXE) another with PXE and retinitis pigmentosa. methods: Ophthalmologic examinations were performed, and the ABCC6 gene was analysed by direct genomic sequencing. RESULTS: Fundus examinations of the 48-year-old proband disclosed angioid streaks and a peud'orange appearance of the retina of the both eyes, whereas both of his 25- and 20-year-old daughters had pigmentary degeneration and angioid streaks. In the sibilings, the mixed cone-rod ERG was almost nondetectable, whereas that of the proband was well-preserved. Molecular genetic analysis revealed that the proband has a homozygous nonsense mutation at the 595 bp in the ABCC6, and the siblings were heterozygous for the same mutation. This mutation was not detected in Japanese subjects in the JSNP database (http://snp.ims.u-tokyo.ac.jp/). CONCLUSIONS: Our results demonstrated an association between a novel mutation in the ABCC6 gene and PXE in a Japanese family.- - - - - - - - - - ranking = 1keywords = streak (Clic here for more details about this article) |
2/3. angioid streaks associated with abetalipoproteinemia.angioid streaks were observed in a 31-year-old man with abetalipoproteinemia. angioid streaks have now been described in hereditary spherocytosis, beta thalassemia, alpha thalassemia, sickle cell anemia, and acanthocytosis secondary to abetalipoproteinemia and hypobetalipoproteinemia. The nature of the association of angioid streaks and structural defects of hemoglobin and the red blood cell is not understood.- - - - - - - - - - ranking = 3.5keywords = streak (Clic here for more details about this article) |
3/3. hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome?We report on a 22-month-old male with congenital hypertrichosis of the face, arms, legs, shoulders, back, and buttocks, abnormal facial appearance, dolichocephaly, and pigmentary retinopathy. Symmetrical hyperpigmentation is present on the sideburn areas of his face, and hyperpigmented streaks are seen on arms and legs. biopsy of the hyperpigmented' skin showed many separate bundles of smooth muscles in the dermis. No relative had hypertrichosis or other birth defects. To our knowledge, the syndrome of facial anomalies, pigmentary retinopathy, and congenital hypertrichosis has not been reported previously.- - - - - - - - - - ranking = 0.5keywords = streak (Clic here for more details about this article) |