Inherited Retinal Disease: Specialist Diagnosis and Care in Adelaide
iSight Specialists provides diagnosis, genetic testing coordination and longterm management of inherited retinal disease (IRD) for children and adults across Adelaide and South Australia. Our paediatric ophthalmologist, Dr Deepa Taranath, is a founding member of the Ocular Genetics Clinic at Flinders Medical Centre — one of the few clinics in Australia dedicated to inherited eye disorders
What is an inherited retinal disease?
An inherited retinal disease (IRD) is a genetic condition that damages the light-sensing cells of the retina, causing vision loss that can range from mild night-vision difficulty to legal blindness. Also called inherited retinal dystrophies, IRDs affect about 1 in 1,380 people — roughly 19,000 Australians
The retina is the light-sensitive layer of tissue at the back of the eye. It
captures light and sends signals to the brain through the optic nerve. In an inherited retinal disease, a variation (mutation) in a single gene disrupts how the retina’s photoreceptor cells work, and they gradually stop functioning.
There are more than 20 types of inherited retinal disease and more than 300 genes known to cause them. Vision loss can begin at birth, in childhood, or not until adulthood. Importantly, most IRDs cause partial sight loss — complete “black-blindness” is rare — and a confirmed genetic diagnosis today can open the door to treatment trials and therapies that did not exist a decade ago
What are the types of inherited retinal disease?
The most common inherited retinal disease is retinitis pigmentosa. Other major types include Leber congenital amaurosis, Stargardt disease, Usher syndrome, choroideremia, cone-rod dystrophy, Xlinked retinoschisis, Best disease and achromatopsia — more than 20 conditions in total.
Retinitis pigmentosa (RP)
The most common IRD. Night blindness in childhood usually comes first, then loss of peripheral (side) vision. Over 70 genes can cause RP.
Leber congenital amaurosis (LCA)
A severe retinal dystrophy that appears at birth or in infancy. Caused by several genes, including RPE65 — the gene with an approved gene therapy.
Stargardt disease
Often called juvenile macular degeneration. Loss of central vision typically begins in childhood or the teenage years.
Usher syndrome
A syndromic IRD: retinitis pigmentosa combined with hearing loss. Early diagnosis supports both hearing and vision intervention.
Cone-rod dystrophy
Damage starts in the cone cells that provide central vision, sharp detail and colour, and may later affect rod cells.
Choroideremia
An X-linked condition that mainly affects males, causing progressive loss of peripheral and night vision.
X-linked retinoschisis
Affects boys almost exclusively; the layers of the retina split, reducing sharp, central vision.
Achromatopsia & Best disease
Achromatopsia causes day blindness and absent colour vision from infancy; Best disease causes a slowly progressive macular dystrophy.
What are the symptoms of inherited retinal disease in children?
Common early signs of inherited retinal disease in children include difficulty seeing at night or in dim light, clumsiness or bumping into objects, sensitivity to light and glare, involuntary eye movements (nystagmus), unusual head postures, and difficulty recognising colours or reading the whiteboard at school.
Because children rarely complain about vision they have never had, IRDs are often first noticed by parents, teachers or optometrists. Book a paediatric eye assessment if you notice:
- Night-vision problems — fear of the dark, difficulty in dim restaurants, cinemas or at dusk
- Clumsiness — bumping into furniture, difficulty with stairs, ball sports or crowded spaces
- Light sensitivity — squinting, discomfort or watering in bright sunlight
- Nystagmus — involuntary, repetitive eye movements
- Eye pressing or rubbing — repetitive poking at the eyes (a recognised sign of retinal problems in young children)
- Learning or vision difficulties — sitting very close to screens, falling behind at school without an obvious reason
- Family history — a parent or sibling with retinitis pigmentosa or unexplained vision loss
How common is inherited retinal disease in Australia?
Approximately 19,000 Australians live with an inherited retinal disease — around 1 in 1,380 people. IRDs are the leading cause of blindness in working-age adults and the second leading cause of blindness in children in Australia, after cerebral visual impairment
Australians living with an IRD (≈1 in 1,380) — Retina Australia
Genes known to cause inherited retinal disease
Cause of blindness in working-age adults in Australia
~6 in 10
People with an IRD currently receive a genetic diagnosis from testing
What causes inherited retinal disease and how is it inherited?
Inherited retinal disease is caused by a variation in a gene that the retina needs to function. It can be passed down through families in dominant, recessive or X-linked patterns — or appear for the first time in a child with no family history, through a spontaneous (“de novo”) gene change.
Inheritance patterns matter because they determine the chance of the condition recurring in your children or appearing in other relatives:
- Autosomal dominant — one affected parent; each child has a 1-in-2 chance of inheriting the gene variant. Often visible across several generations.
- Autosomal recessive — both parents carry one silent copy; each child has a 1-in-4 chance of being affected. Generations can be “skipped”, so there may be no family history at all.
- X-linked — the gene is on the X chromosome; usually affects males, while female relatives may be unaffected carriers.
- De novo (spontaneous) — a brand-new gene change that no one else in the family carries.
Some IRDs also affect other parts of the body — Usher syndrome involves hearing loss, for example. When an IRD is suspected, our clinic works with clinical geneticists so the whole family picture, not just the eye, is understood and counselled properly.
How is inherited retinal disease diagnosed?
Inherited retinal disease is diagnosed with a specialist eye examination and retinal imaging, then confirmed by genetic testing — the gold standard known as a molecular diagnosis. Today's testing finds the responsible gene in about in 10 people, and a confirmed diagnosis is the only way to know exactly which condition you have.
Depending on age and presentation, assessment may include:
Dilated fundus examination — a detailed look at the retina
Optical coherence tomography (OCT) — cross-sectional scans of retinal layers
Electroretinography (ERG) — measures how well the photoreceptor cells respond to light; often the key test for IRD
Fundus autofluorescence and colour-vision testing
Visual field testing — maps peripheral (side) vision
Genetic testing — a blood or saliva sample analysed against a panel of known IRD genes, coordinated with clinical genetics services
Genetic testing does more than name the condition. It confirms the inheritance pattern so the family can plan, identifies relatives who may benefit from screening, and — increasingly — determines eligibility for approved treatments and clinical trials.
What treatments and support are available for inherited retinal disease?
There is currently one TGA-approved treatment for inherited retinal disease in Australia: the gene therapy Luxturna (voretigene neparvovec), for IRD caused by mutations in the RPE65 gene. For all other IRDs, care focuses on precise diagnosis, monitoring, lowvision support and access to clinical trials as new therapies emerge.
Gene therapy.
Luxturna was approved by the Therapeutic Goods Administration in 2020 and is delivered at two Australian treatment centres — Sydney Eye Hospital and the Royal Victorian Eye and Ear Hospital in Melbourne. Because eligibility depends on the exact gene, a confirmed molecular diagnosis is the essential first step, and we coordinate referrals for families who may qualify.
Research and trials
The pipeline is active: gene therapies for additional genes, stem-cell approaches, optogenetics and retinal implants are all in development, many in Australian trials. Patients on our IRD pathway are kept informed of relevant studies and registries as they open.
Living well with an IRD. A diagnosis is the start of planning, not the end. We connect families with:
- Low-vision services and aids (such as Vision Australia and Guide Dogs)
- Early-intervention programs for infants and toddlers
- Support through the NDIS where eligible
- Education planning with schools — lighting, seating, assistive technology
- Family genetic counselling and carrier testing for relatives
Inherited retinal disease care at iSight Specialists, Adelaide
iSight Specialists offers what few Australian clinics can combine: a paediatric ophthalmologist who is a founding member of an interdisciplinary Ocular Genetics Clinic, working hand in-hand with clinical geneticists to diagnose, manage and counsel families affected by inherited eye disorders.
Subspecialist expertise in genetic eye disease
Dr Deepa Taranath dedicates more than half of her clinical and surgical workload to paediatric ophthalmology and strabismus, with a particular interest in genetic eye disorders.
Ocular genetics at Flinders Medical Centre
Dr Taranath is a founding member of the interdisciplinary Ocular Genetics Clinic at Flinders Medical Centre, collaborating closely with clinical geneticists on diagnosis, management and family counselling.
A family-first pathway.
From first assessment and genetic testing coordination through to low-vision referrals, early intervention and school planning — one team, one plan, for the whole family.
Academic and teaching credentials.
Senior staff specialist at Flinders Medical Centre, senior lecturer in the medicine program at Flinders University, with peer-reviewed publications and national and
international conference invitations.
How to book an inherited retinal disease assessment
To book an inherited retinal disease assessment at iSight Specialists, call 08 7089 8355 or ask your GP or optometrist for a referral. A current referral is required to claim a Medicare rebate — GP and optometrist referrals are valid for 12 months.
For your first appointment, please bring: any previous eye reports, imaging or ERG results; your child’s (or your own) glasses prescription; and, if possible, a simple family tree noting any relatives with vision loss.
- 213 Glen Osmond Road, Frewville, South Australia
- 08 7089 8355
- reception@isight.au
Frequently asked questions about inherited retinal disease
There is no cure for most inherited retinal diseases yet, but there is one approved treatment: the gene therapy Luxturna, for IRD caused by RPE65 gene mutations. Research into further gene therapies, stem cells and retinal implants is progressing rapidly, which is why a confirmed genetic diagnosis matters — it determines which future treatments you may be eligible for.
Yes. Recessive and X-linked IRDs can skip generations, and a spontaneous “de novo” gene change can appear in a child with no affected relatives. Around half of people diagnosed with an IRD have no known family history at the time of diagnosis, which is why genetic counselling is offered to every family we see.
Genetic testing for retinal disease is arranged through an ophthalmologist, usually in partnership with a clinical genetics service. A blood or saliva sample is analysed against a panel of known IRD genes; testing currently identifies the responsible gene in about 6 in 10 people. iSight Specialists coordinates this pathway for patients across South Australia.
Retinitis pigmentosa (RP) is the most common inherited retinal disease. It typically begins with night blindness, followed by progressive loss of peripheral vision, and can be caused by variants in more than 70 different genes.
No — retinitis pigmentosa is one type of inherited retinal disease. “IRD” is the umbrella term for more than 20 genetic retinal conditions, including Stargardt disease, Leber congenital amaurosis, Usher syndrome and choroideremia. Each has different symptoms, progression and treatment implications.
As soon as there are signs — night-vision difficulty, nystagmus, light sensitivity, eye pressing, clumsiness or unexplained poor school vision — or whenever there is a family history of retinal disease. Early assessment supports development, education planning and access to genetic testing while options are open.
Medicare coverage depends on the specific test and eligibility criteria. Some IRD testing pathways attract Medicare rebates while others are self-funded or available through research programs. Our team explains all options and out-of-pocket costs before any testing is arranged.
In Australia, legal blindness means visual acuity below 6/60 on a standard letter chart and/or a remaining visual field of less than 10 degrees — in at least one common definition, both eyes. Legal blindness unlocks government supports and does not mean all sight is gone.
Yes. While many IRDs appear in childhood, some — including certain forms of retinitis pigmentosa and macular dystrophy — first cause symptoms in adulthood. Unexplained progressive vision loss at any age warrants assessment and, if suggestive of IRD, genetic testing.
Families can access low-vision services (Vision Australia, Guide Dogs), early-intervention programs, NDIS supports where eligible, school-based education planning and genetic counselling. iSight Specialists guides each family to the right mix of services as part of their management plan.