Rosa Juliana Maria da Silva, Andrade Sobrinho Marcelo Vicente de, Lipener César
Setor de Lentes de Contato e Refração, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Arq Bras Oftalmol. 2016 Feb;79(1):42-3. doi: 10.5935/0004-2749.20160012.
Alport Syndrome is a hereditary disease that is caused by a gene mutation and affects the production of collagen in basement membranes; this condition causes hemorrhagic nephritis associated with deafness and ocular changes. The X-linked form of this disease is the most common and mainly affects males. Typical ocular findings are dot-and-fleck retinopathy, anterior lenticonus, and posterior polymorphous corneal dystrophy. Some cases involving polymorphous corneal dystrophy and corneal ectasia have been previously described. Here we present a case report of a 33-year-old female with Alport syndrome, posterior polymorphous corneal dystrophy, and irregular astigmatism, whose visual acuity improved with a rigid gas permeable contact lens.
奥尔波特综合征是一种由基因突变引起的遗传性疾病,会影响基底膜中胶原蛋白的产生;这种病症会导致与耳聋和眼部变化相关的出血性肾炎。该疾病的X连锁型最为常见,主要影响男性。典型的眼部表现为点状和斑点状视网膜病变、前圆锥形晶状体和后多形性角膜营养不良。此前已有一些涉及多形性角膜营养不良和角膜扩张的病例报道。在此,我们报告一例33岁患有奥尔波特综合征、后多形性角膜营养不良和不规则散光的女性病例,其视力通过硬性透气性接触镜得到改善。