Genotypic Analysis of X-linked Retinoschisis in Western Australia

Abstract

X-linked Retinoschisis is a leading cause of juvenile macular degeneration. Four Western Australian families affected by X-Linked Retinoschisis were analysed using DNA and clinical information from the Australian Inherited Retinal Disease (IRD) Register and DNA Bank. By direct sequencing of the RS1 gene, three genetic variants were identified; 52+1G > T, 289T > G and 416delA. 289T > G has not been previously reported and is likely to cause a substitution of a membrane binding residue (W92G) in the functional discoidin domain. All clinically diagnosed individuals showed typical electronegative ERGs. The 52+1G > T obligate carrier also recorded a bilaterally abnormal rod ERG and mildly abnormal photopic responses. mfERG trace arrays showed reduced response densities in the paramacular region extending futher temporally for each eye.

Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank

“…To date, Australian researchers have made an important contribution to the understanding of IRD. For example, the mutation spectrums for X‐linked retinoschisis, Best disease, and ORF ‐associated X‐linked RP have been reported. A national repository, such as the Australian IRD Register and DNA Bank, allows for coordinated investigation and clinical translation of such research findings.…”