Dr John De Roach


Medical Physicist

Job Title Principal Medical Physicist
Organisation Name Sir Charles Gairdner Hospital, WA
Areas of Special Interest

Genetics of inherited retinal disease

Adults or Children Adults and Children
Telehealth consults Not available
Additional Information

I am the Principal Investigator for the Australian Inherited Retinal Disease Registry and DNA Bank. This resource currently contains information and DNA for 6000 participants affected with an inherited retinal disease or their family members.

  • We are systematically establishing the genetic cause of disease in our participants as a research activity (not as a clinical service).
  • We have genetically tested 2000 DNA samples to date, and have established the pathogenic variant(s) in many of our participants.

This information can be shared with other health professionals, subject to written consent from the participant. My areas of expertise are in attracting funding for the project and data management.



Phone (08) 6457 2327

Dr John De Roach

is prepared to be contacted by other Health Professionals
Additional Clinical Information

Clinical Information
Inherited Retinal Diseases – Information About Specific Conditions
Recommendations on Clinical Assessment of Patients with Inherited Retinal Degenerations – 2016

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations, and Inheritance Models

Inherited retinal disease
Information for Patients
Retina Australia provides patient information under the conditions tab on their website.

European Reference Networks (ERNs)

ERNs are networks for clinicians and researchers to share expertise, knowledge and resources, this information may be of use to Australian health professionals and researchers.

For links to online portals that provide information on rare diseases including definitions, causes, treatments, and publications for patients, families and professionals in the field. Please see our conditions page.