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Helena Proença A. Castanheira–Dinis M. Monteiro–Grillo 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2006,244(9):1203-1205
Background To report the clinical picture of the rare association of nanophthalmos and pigmentary retinal dystrophy and its cataract surgery outcome.Methods We report a case of a 60–year–old female who presented with bilateral slowly progressive visual loss.Results The patient presented with bilateral light perception visual acuity, exotropia, brunescent cataract hindering fundus examination and hypodontia. Ultrasonography revealed bilateral nanophthalmos. A visual-evoked potential was also performed preoperatively. Cataract surgery with +40D IOL implantation was uneventful. Postoperative fundus examination revealed pigmentary retinal dystrophy, confirmed by electrophysiologic tests. Glycosaminoglycan urinary excretion was normal.Conclusions Congenital bilateral nanophthalmos may rarely be associated with pigmentary retinal dystrophy. We suggest thorough preoperative evaluation in nanophthalmic eyes for the exclusion of significant features concerning visual prognosis.Presented at the 15th SOE Congress-103rd DOG Congress, 2005 Berlin Joint Meeting 相似文献
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目的 分析Hallervorden-Spatz病的脑代谢及影像学表现。方法 搜集了1例临床资料证实为Hallervorden-Spatz病的CT、MRI片,复习了近几年国内外献报告的Hallervorden-Spatz病的表现。结果 Hallervorden-Spatz病的头颅MRI表现为:双侧对称性苍白球的信号异,T1中权呈高信号,T2徊权呈低信号,且苍白球的头部呈高信号,即典型的“虎眼征”。NAA、NAA/Cr、Cho/Cr比正常分别下降25%、16%和8%。结论 Hallervorden-Spatz病的MRI有特殊性的形态学表现和脑代谢的变化,结合临床资料是可以诊断的。 相似文献
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Ungsoo Samuel Kim Ji Soo Kim Jeong-Min Hwang 《Korean journal of ophthalmology : KJO》2009,23(2):121-123
A 46-year-old man presented with visual disturbances in both eyes. His best corrected visual acuity was 0.7 (both eyes). Ptosis and limitation of ocular movement in every direction were observed. Slit lamp examination showed a bilateral iridescent cataract. Fundus examination showed peripheral depigmentation of the retinal pigment epithelium and pigmentary clumping in both eyes that agreed with blocked fluorescence and widow defects on fluorescein angiography. The amplitude of b-wave was decreased on electroretinography. Fourteen months later, the patient''s best corrected visual acuity decreased to 0.3 due to increased lens opacity. Phacoemulsification and intraocular lens implantation were performed on both eyes. At the patient''s final visit, retinal findings were stable with a best corrected visual acuity of 0.7 in both eyes. In conclusion, the visual disturbance could have been caused by both cataracts and retinal degeneration, meaning the fundus should be examined carefully in patients with myotonic dystrophy. 相似文献
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Bardet-Biedl syndrome (BBS) is a ciliopathy causing multivisceral abnormalities. Its prevalence in Europe is from 1/125,000 to 1/175,000. This disorder is defined by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appearing after several years of evolution. Individual clinical phenotype is highly variable. Most signs are present in a majority of patients but only pigmentary retinopathy is constant after infancy. There are many other associated minor clinical signs including diabetes, blood hypertension, congenital cardiopathy or Hirschsprung disease. This broad clinical spectrum is associated to a great genetic heterogeneity, with mainly an autosomal recessive transmission and, sometimes cases of oligogenism. To date, mutations in 12 different genes (BBS1 to BBS12) are responsible for this phenotype. These genes code for proteins involved in the development and function of primary cilia. Absent or non functional BBS proteins affect cilia in certain organs such as kidney or eye. However, some symptoms are still not clearly related to cilia dysfunction. BB syndrome has to be recognized because a molecular diagnosis is possible and will lead to familial genetic counseling and possibly prenatal diagnosis. Patients with BBS will need a multidisciplinary medical care. The renal abnormalities are the main life-threatening features because they can lead to end-stage renal failure and renal transplantation. Retinal dystrophy leading to progressive vision loss, moderate mental retardation, and obesity will affect social life of these patients. 相似文献
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Dr. Hiroshi Shibasaki Motohiro Kato Hajime Inomata Mieko Nishimura Tetsuo Arakawa Takuro Kobayashi Hitoshi Nagara Yoshigoro Kuroiwa 《Acta neurologica Scandinavica》1979,59(6):331-342
Frequency of pigmentary degeneration of the retina (PDR) among patients with degenerative and heredodegenerative neurological diseases (HDNDs) was estimated based on the hospital statistics. PDR was detected in 3% of 176 inpatients with HDNDs by careful ophthalmologic examination. On the other hand, out of 30 consecutive cases of PDR seen in our Department of Neurology, 15 patients were associated with some form of HDNDs. Atypical PDR were more frequently associated with HDNDs than typical PDR. Among neurological manifestations in those 15 cases of PDR associated with HDNDs, mental deficiency, hearing disturbance, spasticity, progressive ophthalmoplegia and ataxia were most frequently encountered. Four cases with unusual symptomatology were presented. Clinical analysis of cases of PDR associated with HDNDs in the present series as well as in the relevant literature revealed an extreme variety of clinical manifestations and underlying metabolic disorders, suggesting a possible participation of multiple factors in the pathogenesis of PDR. Importance of careful ophthalmologic examination in HDNDs was stressed from the prognostic point of view. 相似文献