Abstract：
BACKGROUND: The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus.
METHODS: Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood samples and whole genome sequencing was performed. Variants were validated with Sanger sequencing.
RESULTS: Six members in this Chinese family, including three affected individuals and three controls, were recruited in this study. The ophthalmic examination of three recruited patients was consistent with fundus albipunctatus. Three variants, a novel frameshift deletion c.39delA [p.(Val14CysfsX47] and a haplotype of two rare missense variants, c.683G > A [p.(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter.
CONCLUSIONS: We identified novel compound heterozygous variants in RDH5 responsible for fundus albipunctatus in a large Chinese family. The results of our study further broaden the genetic defects of RDH5 associated with fundus albipunctatus.
METHODS: Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood samples and whole genome sequencing was performed. Variants were validated with Sanger sequencing.
RESULTS: Six members in this Chinese family, including three affected individuals and three controls, were recruited in this study. The ophthalmic examination of three recruited patients was consistent with fundus albipunctatus. Three variants, a novel frameshift deletion c.39delA [p.(Val14CysfsX47] and a haplotype of two rare missense variants, c.683G > A [p.(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter.
CONCLUSIONS: We identified novel compound heterozygous variants in RDH5 responsible for fundus albipunctatus in a large Chinese family. The results of our study further broaden the genetic defects of RDH5 associated with fundus albipunctatus.
摘要：
背景：这项研究的目的是确定一个中国患有双斑眼底的家庭的遗传缺陷。
方法：完成眼科检查，包括裂隙灯生物显微镜，扩张式间接检眼镜,眼底摄影,自发荧光,进行了扫频源光学相干断层扫描(SS-OCT)和全场视网膜电图(ffERG).从血液样品中提取基因组DNA并进行全基因组测序。用Sanger测序验证变体。
结果：这个中国家庭的六个成员，包括三个受影响的个人和三个对照，在这项研究中被招募。招募的三名患者的眼科检查与眼底双斑一致。三个变种,小说的移码删除c.39delA[p.（Val14CysfsX47]和两个罕见错义变体的单倍型，c.683G>A[p.（Arg228Gln）]连同c.710A>G[p。（Tyr237Cys），在该家族中，视网膜脱氢酶5（RDH5）基因被发现与常染色体隐性遗传的眼底分离。
结论：我们在一个大型中国家族中鉴定了RDH5中的新型复合杂合变体，该变体负责眼底。我们的研究结果进一步拓宽了与眼底相关的RDH5的遗传缺陷。
方法：完成眼科检查，包括裂隙灯生物显微镜，扩张式间接检眼镜,眼底摄影,自发荧光,进行了扫频源光学相干断层扫描(SS-OCT)和全场视网膜电图(ffERG).从血液样品中提取基因组DNA并进行全基因组测序。用Sanger测序验证变体。
结果：这个中国家庭的六个成员，包括三个受影响的个人和三个对照，在这项研究中被招募。招募的三名患者的眼科检查与眼底双斑一致。三个变种,小说的移码删除c.39delA[p.（Val14CysfsX47]和两个罕见错义变体的单倍型，c.683G>A[p.（Arg228Gln）]连同c.710A>G[p。（Tyr237Cys），在该家族中，视网膜脱氢酶5（RDH5）基因被发现与常染色体隐性遗传的眼底分离。
结论：我们在一个大型中国家族中鉴定了RDH5中的新型复合杂合变体，该变体负责眼底。我们的研究结果进一步拓宽了与眼底相关的RDH5的遗传缺陷。
