Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene

Purpose SOFT syndrome is an extremely rare inherited dwarfism syndrome. The syndrome has four major clinical manifestations: short stature, onychodysplasia, facial dysmorphism, and hypotrichosis. Herein, we report a unique case of a SOFT syndrome with findings of pigmentary retinopathy. Methods Case report Results A 3-year boy was referred to our clinic for ophthalmologic examination from Genetic Diseases Diagnosis Center. In ophthalmic examination, anterior segment was normal bilaterally in biomicroscopy. Fundus examination revealed bilateral yellow-white punctate retinal pigment epithelium lesions located in the midperipheral retina. Macula optical coherence tomography was bilaterally normal. Whole exome sequencing (WES) analysis revealed a homozygous intronic splice site variant (c.103 + 1 G>T) in POC1A, hemizygous intronic splice site variant (c.459-5T>A) in TBX22, and a heterozygous missense variant (c.2254 C>T) in DDR2 genes. Conclusion There is a limited number of reported cases with SOFT syndrome and, though retinal findings in SOFT syndrome have been reported in two cases previously, none were given in detail. According to our findings, perivascular and macula sparing midperipheral retina pigment epithelium changes could be observed in patients with SOFT syndrome.