Alport syndrome: a review.

作者: Patricia A McCarthy , Dominick M Maino

DOI: 10.1016/S0953-4431(00)00042-4

关键词:

摘要: Alport syndrome, a hereditary nephritis accompanied by high-tone sensorineural deafness and distinctive ocular signs was first noted in the literature during early 1900s. This disease is caused genetic defect Type IV collagen which makes up basement membranes many body systems. The patient will usually have bilateral anterior lenticonus causing varied refractive errors. You may also note yellow-white to silver flecks within macular midperipheral regions of retina. treatment visual problems an important but secondary concern due seriousness systemic disease. Dual sensory loss, however, creates urgent need for appropriate vision care. Due high risk developmental delay decreased social integration, intervention should be considered plan. Coping strategies (and family) addressed because chronicity this syndrome. primary care optometrist challenged individual with syndrome since balance between oculo-visual, developmental/psycho-educational required. A multi-disciplinary approach healthcare management team enhance quality life positive outcomes these patients.

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