Inherited retinal diseaseGold Coast & Tweed Heads
Genetic conditions such as retinitis pigmentosa and Stargardt disease that gradually affect the retina.
- Diagnosis and imaging
- Genetic testing referral
- Treating complications
The key facts
What you may notice
- Difficulty seeing at night or in dim light
- Narrowing side vision
- Gradual loss of central or colour vision
How it is diagnosed
- Retinal photographs and autofluorescence
- OCT scan
- Electroretinography (ERG) and genetic testing by referral
How it is treated
- Imaging and referral for electrical tests of retinal function
- Referral for genetic testing and counselling
- Treating cataract and macular swelling when they occur
Recovery
- Regular monitoring
- Low-vision support and aids
- Information about trials and gene therapy where suitable
Inside the eye
In retinitis pigmentosa, dark pigment clumps appear in the mid-periphery.
Simplified diagrams for patient education, not to scale.
Everything you need to know
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Overview
Inherited retinal diseases are conditions passed down in families that affect the light-sensing cells of the retina. Examples include retinitis pigmentosa, Stargardt disease, cone-rod dystrophy and Best disease.
Diagnosis
Photographs and scans of the retina are taken in the rooms. You may then be referred for tests of how the retina responds to light (such as an ERG), and for genetic testing with counselling. Knowing the exact gene can help predict how the condition may change, help with family planning, and show whether you could join a clinical trial.
Management
- Regular checks of your vision and retina
- Treating problems such as cataract and swelling at the centre of the retina
- Referral to low-vision services and support organisations
- A gene therapy is approved in Australia for people with confirmed changes in the RPE65 gene. It is given at specialised centres.
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Talk to Dr Weaver about your eyes
A referral from your GP or optometrist is needed to claim Medicare rebates. Our team can help with bookings at Robina and Tweed Heads.