FLVCR1 encodes for a transmembrane heme exporter protein and it is known to cause a rare form of syndromic retinitis pigmentosa: posterior column ataxia with retinitis pigmentosa. Recently, the FLVCR1-associated phenotype has been expanded with sporadic reports of hereditary sensory-autonomic neuropathy or non-syndromic retinitis pigmentosa. Here, we report a 23-year- old female with early onset hypomyelinating sensory-autonomic neuropathy and retinitis pigmentosa. Both features were present since childhood. The patient developed signs of advanced retinitis pigmentosa by the age of 10 years leading to legal blindness after the age of 18. Following candidate gene panel testing, which was negative, whole exome sequencing revealed compound heterozygous pathogenic FLVCR1 variants: NM_014053.3: c.3G > T; p.(Met1?) and NM_014053.3: c.730G > A; p.(Gly244Ser), the latter variant is novel. In this report we highlight the association of retinitis pigmentosa with hypomyelinating sensory-autonomic neuropathy, which could be underdiagnosed due to variable severity. To summarize, the phenotypic heterogeneity of FLVCR1 variants is broad and should include retinitis pigmentosa along with range of neurological features.

FLVCR1编码跨膜血红素输出蛋白，已知会导致罕见形式的色素性视网膜炎：色素性视网膜炎后柱共济失调。最近，与散发遗传性感觉自主神经病或非综合征性色素性视网膜炎的报道相继扩大了FLVCR1相关的表型。在这里，我们报道了一名23岁的女性，其发病初期为低髓鞘性感觉自主神经病和色素性视网膜炎。这两个特征从小就存在。该患者在10岁时出现了晚期色素性视网膜炎的迹象，导致18岁后出现法律失明。经过候选基因检测，结果为阴性，全外显子组测序显示复合杂合病原性FLVCR1变体：NM_014053.3：c.3G> T；p。（Met1？）和NM_014053.3：c.730G> A；p。（Gly244Ser），后一种变体是新颖的。在本报告中，我们强调了色素性视网膜炎与髓鞘增生的感觉自主神经病的关联，由于严重程度的不同，该病可能未被诊断。总而言之，FLVCR1变异的表型异质性很广，应包括色素性视网膜炎以及一系列神经系统特征。