Extreme myopia in a family with a missense PAX6 mutation: extended phenotype

Ophthalmic Genet. 2019 Feb;40(1):64-65. doi: 10.1080/13816810.2018.1558260. Epub 2018 Dec 28.

Authors

Vasily M Smirnov^{1

2}, Patrick Calvas^{3

4

5}, Isabelle Drumare¹, Caroline Marks¹, Sabine Defoort-Dhellemmes¹

Affiliations

¹ a Exploration of Vision and Neuro-ophthalmology Department , Lille University Hospital , Lille , France.
² b Faculté de Médecine , Université de Lille , Lille , France.
³ c CHU Toulouse, Service de génétique médicale , Hôpital Purpan , Toulouse , France.
⁴ d Faculté de Médecine Purpan , Université Paul-Sabatier Toulouse III , Toulouse , France.
⁵ e Université de Toulouse , Toulouse , France.

PMID: 30592234
DOI: 10.1080/13816810.2018.1558260

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Child
Female
Humans
Male
Mutation, Missense*
Myopia / genetics*
Myopia / pathology*
PAX6 Transcription Factor / genetics*
Phenotype
Prognosis
Severity of Illness Index*

Substances

PAX6 Transcription Factor
PAX6 protein, human