Abstract：
UNASSIGNED: The aim of the study is to present a rare case of Foveal Hypoplasia, Optic Nerve Decussation defects, and Anterior segment dysgenesis (FHONDA) confirmed by genetic testing with two separate pathogenic mutations in the SLC38A8 gene.
UNASSIGNED: This was a case report.
UNASSIGNED: A 3-month-old female presented to a neuro-ophthalmology clinic with nystagmus. Her past medical and family history was unremarkable. Her examination demonstrated horizontal pendular nystagmus and small optic nerves with foveal hypoplasia bilaterally. Neuroimaging was unremarkable. She underwent an examination under anesthesia and electroretinogram (ERG). Her anterior segment examination was normal, and dilated fundus examination demonstrated foveal hypoplasia with diffuse pigment granularity. The ERG was normal. Genetic testing revealed two mutations in the SLC38A8 gene, p.Glu233Lys:c.697 G>A (pathogenic) and p.Asp283Ala:c.848A>C (likely pathogenic) with positive parental segregation analysis. Therefore, she was diagnosed with FHONDA.
UNASSIGNED: To our knowledge, this is the first report of a patient with FHONDA who is compound heterozygous for these two SLC38A8 mutations, which represents an expansion of the known mutational spectrum associated with this syndrome. Moreover, it may provide guidance into genetic counseling for patients and parents with these mutations.
UNASSIGNED: This was a case report.
UNASSIGNED: A 3-month-old female presented to a neuro-ophthalmology clinic with nystagmus. Her past medical and family history was unremarkable. Her examination demonstrated horizontal pendular nystagmus and small optic nerves with foveal hypoplasia bilaterally. Neuroimaging was unremarkable. She underwent an examination under anesthesia and electroretinogram (ERG). Her anterior segment examination was normal, and dilated fundus examination demonstrated foveal hypoplasia with diffuse pigment granularity. The ERG was normal. Genetic testing revealed two mutations in the SLC38A8 gene, p.Glu233Lys:c.697 G>A (pathogenic) and p.Asp283Ala:c.848A>C (likely pathogenic) with positive parental segregation analysis. Therefore, she was diagnosed with FHONDA.
UNASSIGNED: To our knowledge, this is the first report of a patient with FHONDA who is compound heterozygous for these two SLC38A8 mutations, which represents an expansion of the known mutational spectrum associated with this syndrome. Moreover, it may provide guidance into genetic counseling for patients and parents with these mutations.
摘要：
未经证实：本研究的目的是介绍一例罕见的中央凹发育不全，视神经排泄缺陷,和前段发育不全（FHONDA）通过SLC38A8基因中两个单独的致病性突变的基因检测证实。
未经评估：这是一例病例报告。
未经证实：一名3个月大的女性因眼球震颤出现在神经眼科诊所。她过去的病史和家族史并不引人注目。她的检查显示水平摆动性眼球震颤和小视神经，双侧中央凹发育不全。神经影像学无明显变化。她在麻醉和视网膜电图（ERG）下接受了检查。她的眼前段检查正常,扩大的眼底检查显示中央凹发育不全，具有弥漫性色素颗粒。ERG正常。基因检测显示SLC38A8基因有两个突变,p.Glu233Lys：c.697G>A（致病性）和p.Asp283Ala：c.848A>C（可能致病性），亲本分离分析为阳性。因此,她被诊断出患有FHONDA。
未经授权：据我们所知，这是FHONDA患者的第一份报告，他是这两个SLC38A8突变的复合杂合子，这代表了与该综合征相关的已知突变谱的扩展。此外，它可以为患有这些突变的患者和父母提供遗传咨询指导。
未经评估：这是一例病例报告。
未经证实：一名3个月大的女性因眼球震颤出现在神经眼科诊所。她过去的病史和家族史并不引人注目。她的检查显示水平摆动性眼球震颤和小视神经，双侧中央凹发育不全。神经影像学无明显变化。她在麻醉和视网膜电图（ERG）下接受了检查。她的眼前段检查正常,扩大的眼底检查显示中央凹发育不全，具有弥漫性色素颗粒。ERG正常。基因检测显示SLC38A8基因有两个突变,p.Glu233Lys：c.697G>A（致病性）和p.Asp283Ala：c.848A>C（可能致病性），亲本分离分析为阳性。因此,她被诊断出患有FHONDA。
未经授权：据我们所知，这是FHONDA患者的第一份报告，他是这两个SLC38A8突变的复合杂合子，这代表了与该综合征相关的已知突变谱的扩展。此外，它可以为患有这些突变的患者和父母提供遗传咨询指导。
