Unusual retinopathy in a child with severe combined immune deficiency

作者：Gerth Kahlert Christina^*; Tiwari Amit; Hauri Hohl Mathias M; Hanson James V M; Bahr Angela; Palmowski Wolfe Anja; Gungor Tayfun; Berger Wolfgang

来源：Ophthalmic Genetics, 2018, 39(1): 92-94.

DOI：10.1080/13816810.2017.1350721

• SCID
• retinopathy
• LCA
• enterovirus
• whole exome sequencing (WES)

We describe a case of an infant diagnosed with severe combined immune deficiency (Adenosine Deaminase (ADA), SCID) with severe retinopathy and associated low vision in both eyes at first examination. An extensive infectious work up revealed an enterovirus infection, which suggested an early infectious and severe retinopathy. Genetic causes of congenital retinitis pigmentosa/Leber's congenital amaurosis could be excluded by whole exome sequencing.

• 出版日期2018
• 单位河北医科大学