Raimundo Miguel, Fonseca Cristina, Silva Rufino, Figueira João
1 Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal.
2 Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.
Eur J Ophthalmol. 2019 Jan;29(1):NP13-NP16. doi: 10.1177/1120672118781232. Epub 2018 Jun 6.
: Alport syndrome is a rare condition characterized by the clinical triad of nephritic syndrome, sensorineural deafness, and ophthalmological alterations. Herein, we present a rare case of a patient diagnosed with Alport syndrome and bilateral giant macular holes.
: A 40-year-old woman with a previously unreported mutation in the COL4A4 gene suggestive of autosomal-recessive Alport syndrome presented at our department. The patient exhibited bilateral full-thickness macular holes measuring >1500 µm at their smallest diameters. The very large dimensions of both macular holes were indicative of a bad prognosis regarding hole closure, and a conservative approach was adopted. The patient was maintained on renal substitution therapy, and genetic counseling was offered to other family members.
: Ophthalmological findings associated to Alport syndrome commonly include anterior lenticonus and dot-and-fleck retinopathy, although giant macular holes can also be associated with this condition. A multidisciplinary approach is crucial in the management of these patients, as Alport syndrome is an inherited systemic basement membrane disease.
奥尔波特综合征是一种罕见疾病，其特征为肾病综合征、感音神经性耳聋和眼科改变的临床三联征。在此，我们报告一例罕见病例，一名被诊断为奥尔波特综合征并患有双侧巨大黄斑裂孔的患者。
一名40岁女性因COL4A4基因存在此前未报告的突变，提示为常染色体隐性奥尔波特综合征，前来我科就诊。该患者双侧黄斑全层裂孔，最小直径>1500 µm。两个黄斑裂孔尺寸都非常大，提示裂孔闭合预后不佳，因此采取了保守治疗方法，并对患者进行肾脏替代治疗，同时为其他家庭成员提供了遗传咨询。
与奥尔波特综合征相关的眼科表现通常包括前圆锥形晶状体和点状及斑状视网膜病变，尽管巨大黄斑裂孔也可能与该疾病相关。由于奥尔波特综合征是一种遗传性系统性基底膜疾病，多学科方法对于这些患者的管理至关重要。
