Ghadiri N, Stanojcic N, Raja Msa, Burton B J
Department of Ophthalmology, James Paget University Hospitals NHS Foundation Trust, Great Yarmouth, UK.
University of East Anglia, Norwich, UK.
Eur J Ophthalmol. 2019 Jul;29(1_suppl):10-14. doi: 10.1177/1120672119841002. Epub 2019 Apr 7.
Alport syndrome is an inherited Type IV collagenopathy characterised by renal failure, hearing loss and ophthalmic manifestations such as lenticonus and dot-and-fleck retinopathy. New signs have been described which can be useful both for diagnosis and for prognosticating the risk of complications. This study examines and describes a triad comprising the unusual 'stair-case' foveal sign, together with choroidal thinning and late-stage peripheral schisis in a patient with Alport syndrome.
This is a case report of a 49-year-old Caucasian male with a background of X-linked Alport syndrome presenting with gradual and progressive diminution of vision in the left eye with a central blur. He had already undergone three renal allografts, was deaf and suffered from hypertension by the time of his first presentation to ophthalmology. On examination, corrected visual acuity was 6/9.5 in the right eye and 6/30 in the left eye. Optical coherence tomography imaging showed an unusual 'stair-case' sign of the fovea in both eyes, together with choroidal thinning. We postulate that an abnormal vitreomacular interface followed by vitreomacular traction and eventually separation, removing layers of the inner retina with the vitreous, led to this unusual appearance. Subsequently, this patient also developed schitic changes more peripherally in the retina which progressed over the following 5 years.
The stair-case foveal sign, choroidal thinning and mid-peripheral schisis are three signs that clinicians might expect to encounter on optical coherence tomography imaging of patients with Alport syndrome. These findings can be attributed to unique mutations of collagen IV which lead to a variety of clinical phenotypes affecting basement membrane structures. Identification of these features may not only be useful diagnostically and in forecasting complications such as macular holes, but also predict mode of inheritance and likelihood of early-onset renal failure.
Alport综合征是一种遗传性IV型胶原病，其特征为肾衰竭、听力丧失以及眼部表现，如圆锥形晶状体和点状及斑状视网膜病变。已经描述了一些新的体征，这些体征对诊断和预测并发症风险均有帮助。本研究检查并描述了一名Alport综合征患者的三联征，包括不寻常的“阶梯状”黄斑体征、脉络膜变薄和晚期周边视网膜劈裂。
这是一例49岁白种男性的病例报告，其患有X连锁Alport综合征，左眼视力逐渐渐进性下降且中央模糊。他已经接受了三次肾移植，首次就诊眼科时已失聪并患有高血压。检查发现，右眼矫正视力为6/9.5，左眼为6/30。光学相干断层扫描成像显示双眼黄斑出现不寻常的“阶梯状”体征以及脉络膜变薄。我们推测，异常的玻璃体黄斑界面继以玻璃体黄斑牵拉并最终分离，随着玻璃体移除内层视网膜各层，导致了这种不寻常的外观。随后，该患者视网膜周边也出现了劈裂改变，并在接下来的5年中进展。
阶梯状黄斑体征、脉络膜变薄和中周部视网膜劈裂是临床医生在Alport综合征患者的光学相干断层扫描成像中可能会遇到的三个体征。这些发现可归因于IV型胶原的独特突变，其导致了影响基底膜结构的多种临床表型。识别这些特征不仅在诊断和预测黄斑裂孔等并发症方面可能有用，还可预测遗传模式和早发性肾衰竭的可能性。
