Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches

Rose Richardson¹, Jane Sowden², Christina Gerth-Kahlert³, Anthony T Moore^{1

4

5}, Mariya Moosajee^{1

5

6}

Affiliations

¹ Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK.
² Department of Developmental Biology & Genetics,UCL Institute of Child Health, London, UK.
³ Department of Ophthalmology, University of Zurich, Zurich, Switzerland.
⁴ Department of Ophthalmology, University of California, San Francisco, CA, USA.
⁵ Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
⁶ Department of Paediatric Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Rose Richardson et al. Eur J Hum Genet. 2017 Apr.

. 2017 Apr;25(4).

doi: 10.1038/ejhg.2016.201. Epub 2017 Jan 18.

Rose Richardson¹, Jane Sowden², Christina Gerth-Kahlert³, Anthony T Moore^{1

4

5}, Mariya Moosajee^{1

5

6}

¹ Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK.
² Department of Developmental Biology & Genetics,UCL Institute of Child Health, London, UK.
³ Department of Ophthalmology, University of Zurich, Zurich, Switzerland.
⁴ Department of Ophthalmology, University of California, San Francisco, CA, USA.
⁵ Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
⁶ Department of Paediatric Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

No abstract available

Conflict of interest statement

The authors declare no conflict of interest.

1. Verma AS, Fitzpatrick DR: Anophthalmia and microphthalmia. Orphanet J Rare Dis 2007; 2: 47. - PMC - PubMed
1. Weiss AH, Kousseff BG, Ross EA, Longbottom J: Complex microphthalmos. Arch Ophthalmol 1989; 107: 1619–1624. - PubMed
1. Nishina S, Kurosaka D, Nishida Y, Kondo H, Kobayashi Y, Azuma N: Survey of microphthalmia in Japan. Jpn J Ophthalmol 2012; 56: 198–202. - PubMed
1. Forrester MB, Merz RD: Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001. Birth Defects Res A Clin Mol Teratol 2006; 76: 187–192. - PubMed
1. Morle L, Bozon M, Zech JC et al: A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. Am J Hum Genet 2000; 67: 1592–1597. - PMC - PubMed