ABSTRACT

Background: Syndromic ciliopathies have been variably linked to different retinal dystrophies. However, to date, few reports have characterized by means of multimodal imaging the retinal degeneration occurring in Mainzer-Saldino syndrome (MSS).

Methods: Two siblings with history of kidney disease and other systemic abnormalities presented at our eye clinic in October 2017 complaining of night blindness and visual loss. They underwent a complete ophthalmologic examination including visual acuity (VA) assessment, optical coherence tomography (OCT) and blue-light autofluorescence (BAF). A screen for inherited retinal dystrophies was performed in this occasion.

Results: At baseline, the youngest sister had slightly worse VA (20/30 vs. 20/20-25 Snellen equivalents). On fundoscopy, both siblings had severe thinning of the peripheral retina, attenuation of retinal vessels and widespread accumulation of pigmented deposits. Significant outer retinal atrophy with apparent foveal sparing was appreciable on OCT.

During the 3 years of follow-up, vision remained overall stable in both patients whereas minimal progression of outer retinal atrophy was observed by means of OCT. Genetic analysis revealed compound heterozygosity in the IFT172 gene. Based on these findings, a diagnosis of retinitis pigmentosa (RP) associated with MSS was formulated.

Conclusions: Our report describes the cases of two siblings affected by retinitis pigmentosa associated with MSS. Although both carrying the same mutations and a severe RP phenotype, the youngest sister had slightly more advanced retinal degeneration highlighting the remarkable variability related to the IFT172 retinopathy.

摘要

背景：综合征性纤毛病与不同的视网膜营养不良有不同的联系。然而，迄今为止，很少有报告通过多模态成像来表征 Mainzer-Saldino 综合征 (MSS) 中发生的视网膜变性。

方法：2017 年 10 月，有肾脏疾病和其他全身异常病史的两个兄弟姐妹在我们的眼科诊所就诊，主诉夜盲症和视力丧失。他们接受了完整的眼科检查，包括视力 (VA) 评估、光学相干断层扫描 (OCT) 和蓝光自发荧光 (BAF)。在这种情况下进行了遗传性视网膜营养不良的筛查。

结果：在基线时，最小的妹妹的 VA 稍差（20/30 对 20/20-25 Snellen 等效值）。在眼底镜检查中，兄弟姐妹的周边视网膜严重变薄，视网膜血管衰减和色素沉着广泛积聚。OCT 上可观察到显着的外层视网膜萎缩，并伴有明显的中央凹保留。

在 3 年的随访期间，两名患者的视力总体保持稳定，而通过 OCT 观察到外层视网膜萎缩的进展很小。遗传分析揭示了 IFT172 基因中的复合杂合性。基于这些发现，制定了与 MSS 相关的视网膜色素变性 (RP) 的诊断。

结论：我们的报告描述了两个兄弟姐妹患有与 MSS 相关的色素性视网膜炎的病例。尽管两者都携带相同的突变和严重的 RP 表型，但最小的妹妹的视网膜退化程度稍高，突出了与 IFT172 视网膜病变相关的显着变异性。