Article
Abnormal retinal development associated with FRMD7 mutations.
Human molecular genetics - 1 Aug 2014
Thomas Mervyn G, Crosier Moira, Lindsay Susan, Kumar Anil, Araki Masasuke, Leroy Bart P, McLean Rebecca J, Sheth Viral, Maconachie Gail, Thomas Shery, Moore Anthony T, Gottlob Irene
Abstract excerpt
Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder, often associated with FRMD7 mutations. As the appearance of the retina is reported to be normal based on conventional fundus photography, IIN is postulated to arise from abnormal cortical development. To determine whether the afferent visual system is involved in FRMD7 mutations, we performed in situ hybridization studies in human...
Topics
- Adolescent
- Adult
- Aged
- Case-Control Studies
- Child
- Cytoskeletal Proteins
- Embryo, Mammalian
- Female
- Fetus
- Gene Expression Regulation, Developmental
- Humans
- In Situ Hybridization
- Male
- Membrane Proteins