Inherited Retinal Degeneration and Gene Identification

(+44) 01865 234 704 (fax (+44) 01865 234 795)
stephanie.halford@eye.ox.ac.uk

NLO

Our work involves the identification and characterisation of genes that play a role in the development, maintenance and function of the retina and includes both visual and non-image forming tasks.

Hypotrichosis and juvenile macular dystrophy caused by a deletion in CDH3. (a) Schematic diagram of the genomic structure of CDH3. Arrows mark the approximate position of the intronic primers used for PCR. (b) Sequence of the intron 12/exon13 boundary in a control sample and the case, a homozygous change in intron 12 (c.1796-2A>G) is seen in the case. (c) Schematic diagram of the 2490bp CDH3 mRNA, the arrows mark the approximate position of the exonic primers used for PCR. (d) The sequence from the PCR fragment obtained from cDNA, confirmation that the base change shown in (a) results in a product missing exon 13 in the patient the sequence shows exon 12 is spliced directly to exon 14.

The major focus of the laboratory is in the identification and characterisation of genes involved in development, maintenance and function of the retina particularly where dysfunction of these genes causes retinal degeneration. Inherited retinal dystrophies, leading to either partial or total blindness, affect ∼1 in 2500-3500 people. Many more suffer from age-related macular degeneration (AMD) in later life with 25% of people over the age of 70 affected by AMD. Dysfunction or death of rod and cone photoreceptors is the primary cause of blindness in the vast majority of retinal degenerative diseases. Many of the disease genes already identified are abundantly expressed in the retina and have well defined and specific functions in the photoreceptors.