Unusual retinopathy in a child with severe combined immune deficiency

被引:1
作者
Gerth-Kahlert, Christina [1 ]
Tiwari, Amit [2 ]
Hauri-Hohl, Mathias M. [3 ,4 ]
Hanson, James V. M. [1 ]
Bahr, Angela [2 ]
Palmowski-Wolfe, Anja [5 ]
Gungor, Tayfun [3 ,4 ]
Berger, Wolfgang [2 ,6 ,7 ,8 ]
机构
[1] Univ Hosp Zurich, Dept Ophthalmol, Frauen Klin Str 24, CH-8091 Zurich, Switzerland
[2] Univ Zurich, Inst Med Mol Genet, Schlieren, Switzerland
[3] Univ Childrens Hosp Zurich, Div Stem Cell Transplantat, Zurich, Switzerland
[4] Univ Childrens Hosp Zurich, Childrens Res Ctr, Zurich, Switzerland
[5] Univ Hosp Basel, Dept Ophthalmol, Basel, Switzerland
[6] Univ Zurich, Zurich Ctr Integrat Human Physiol, Zurich, Switzerland
[7] Univ Zurich, Neurosci Ctr Zurich, Zurich, Switzerland
[8] Swiss Fed Inst Technol, Zurich, Switzerland
基金
瑞士国家科学基金会;
关键词
SCID; retinopathy; LCA; enterovirus; whole exome sequencing (WES); ACUTE RETINAL NECROSIS; SIMPLEX-VIRUS TYPE-2; DISEASE;
D O I
10.1080/13816810.2017.1350721
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:92 / 94
页数:3
相关论文
共 13 条
  • [1] CONGENITAL AND NEONATAL VARICELLA
    DENICOLA, LK
    HANSHAW, JB
    [J]. JOURNAL OF PEDIATRICS, 1979, 94 (01) : 175 - 176
  • [2] Neonatal Herpes Simplex Virus Type-1 Central Nervous System Disease With Acute Retinal Necrosis
    Fong, Choong Yi
    Aye, Aye Mya Min
    Peyman, Mohammadreza
    Nor, Norazlin Kamal
    Visvaraja, Subrayan
    Tajunisah, Iqbal
    Ong, Lai Choo
    [J]. PEDIATRIC INFECTIOUS DISEASE JOURNAL, 2014, 33 (04) : 424 - 426
  • [3] CONGENITAL-RUBELLA SYNDROME - OPHTHALMIC MANIFESTATIONS AND ASSOCIATED SYSTEMIC DISORDERS
    GIVENS, KT
    LEE, DA
    JONES, T
    ILSTRUP, DM
    [J]. BRITISH JOURNAL OF OPHTHALMOLOGY, 1993, 77 (06) : 358 - 363
  • [4] Bilateral Acute Retinal Necrosis with Concurrent Retinopathy of Prematurity in Two Neonates
    LaMattina, Kara C.
    Wirostko, William J.
    Costakos, Deborah M.
    [J]. OCULAR IMMUNOLOGY AND INFLAMMATION, 2016, 24 (01) : 115 - 117
  • [5] NAHMIAS A J, 1972, International Ophthalmology Clinics, V12, P191, DOI 10.1097/00004397-197201220-00014
  • [6] Perrault Isabelle, 2007, Hum Mutat, V28, P416, DOI 10.1002/humu.9485
  • [7] Cytomegalovirus retinitis and optic neuritis in a child with severe combined immunodeficiency syndrome
    Perren, BA
    Raisanen, J
    Good, WV
    Crawford, JB
    [J]. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 1996, 16 (02): : 117 - 121
  • [8] Ocular Toxoplasmosis: Recent Aspects of Pathophysiology and Clinical Implications
    Pleyer, Uwe
    Schlueter, Dirk
    Maenz, Martin
    [J]. OPHTHALMIC RESEARCH, 2014, 52 (03) : 116 - 123
  • [9] Raz J, 1993, Ocul Immunol Inflamm, V1, P263, DOI 10.3109/09273949309085027
  • [10] Herpes simplex virus type 2 mediated acute retinal necrosis in a pediatric population: case series and review
    Silva, Ruwan A.
    Berrocal, Audina M.
    Moshfeghi, Darius M.
    Blumenkranz, Mark S.
    Sanislo, Steven
    Davis, Janet L.
    [J]. GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2013, 251 (02) : 559 - 566