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Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) is one of the rarer bestrophinopathies.
What is Autosomal Dominant听Vitreoretinochoroidopathy听(ADVIRC)?听
ADVIRC is a听dominantly inherited听bestrophinopathy听which affects the听Retinal Pigment Epithelium (RPE)听cells of the eye.听ADVIRC, which听was first discovered in the 1950鈥檚听causes retinal degeneration,听appears to affect eye development, and is very different from the other听Bestrophinopathis. ADVIRC is听a rare disease,听thought to affect less than 1 in a million people.听Patients are听usually听diagnosed with ADVIRC in the first decade of life.听听听
How does ADVIRC affect the eye?听听
Patients with听ADVIRC鈥檚 have a听highly pigmented circular band present听in听the听outer regions听(periphery)听of听the retina,听with a distinct border听between听the听highly听pigmented retina and normal retina. This听so called,听鈥渉yperpigmented鈥澨齜and is听a distinctive characteristic of the disease in all older听patients.听听Early in the disease听ADVIRC affects the outer retina and听there听may be very little change in the appearance of the central retina, but as ADVIRC progresses it can听affect the听macular region, causing central vision loss.听Other features of the disease include white/yellow punctate deposits, seen as dots or specks听present听throughout the retina,听choroidal neovascularisation leading to bleeds in the retina,听atrophy (death) of retina and scar formation.听ADVIRC may also affect the development of the听optic disc听and the size of听the retinal arteries.听The image below is a schematic for ADVIRC:听
Patients with ADVIRC can have vision ranging from light perception to 6/6 on a听Snellen chart听at presentation, however,听the majority of听patients have vision which remains stable听at least 6/12 measured on the Snellen chart until late in life. Typically, after a patient reaches their twenties, vision may remain stable听and听slowly decline听with age. However, some ADVIRC patients can have a rapid decline in vision in the second decade of life.听听
Patients with ADVIRC are also more like to suffer from eye development issues, such as microcornea (a smaller听cornea听which is less than 10mm in diameter), hyperopia (being long-sighted), having a narrow anterior chamber angle (a risk-factor for acute angle closure glaucoma), formation of cataracts听and听nanopthalmos听(having an unusually small eye).听听听
How is听ADVIRC听diagnosed?听
OCT imagery can be used to look at the hyperpigmented retinal layer and look for any retinal atrophy (retinal death), OCTs can also be useful in assessing any possible fluid accumulation beneath the retina.听听
In terms of Autofluoresence Imaging, it is useful as autofluorescence is normal in the central retina, however it is usually blocked by the peripheral ring of hyperpigmentation in the retina.听
EOG readings are abnormal. ERG readings may be normal, or they may be reduced as overtime there maybe be reductions in听rod and cone photoreceptor听responses.听听
Are there any complications听associated with听ADVIRC?听
There are听a听number of听complications听associated with听ADVIRC听that can affect vision:
Macular Edema
Swelling caused by fluid build-up, could also be a complication which if untreated could lead to vision loss.听听
Chororioretinal Atrophy
Occurs when there is death of the RPE and its surrounding retinal layers which can lead to the choroid and even the sclera being seen听through听the fundus听image due to the absence of pigmented cells.听听
Retinal Detachment
A听retinal detachment,听where the听retina peels听away听from the back of the eye听is听an听eye emergency and needs treatment straight away. A sudden increase in floaters听(moving lines and dots in your vision), flashes of light or a shadow over your vision are all signs of retinal detachment听and should be treated immediately to prevent permanent vision loss.听
Vitreous Haemorrhage
Occurs when blood leaks into the听vitreous humour, which could lead to a sudden loss of vision.听听
What are the treatment options for ADVIRC鈥檚?听听
There is currently no medical or surgical treatment option available for ADVIRCs, or any of the听bestrophinopathies, however听research听is ongoing and promising. Patients are encouraged to visit the many听charities and support group听which exist for those suffering from听bestrophinopathies.听听听
Many treatments are available for the complications of ADVIRC:
Choroidal Neovascularization (CNV)
Anti-VEGF injections can be injected into the eyes of patients in a hospital setting by doctors to stop the growth of new blood vessels, with the aim of preserving vision.听听
Macular Edema
The swelling causes by cystoid macular听edema听can be treated by injection of diuretics and steroids into the back of the eye.听
Far-sightedness
Hyperopia (the ability to see objects at distance but close objects appear blurry) can be treated with prescription lenses and contact lenses.听
Glaucoma
Patients at risk of glaucoma receive regular monitoring to check the pressure within the eye. Glaucoma can be treated using eye drops during the early stages, and with laser treatment or surgery in later stages.听
颁丑辞谤辞谤颈辞谤别迟颈苍补濒听补迟谤辞辫丑测
Photocoagulation听therapy, where a laser is used to burn off or fuse together the retina听can be used to treat听chorioretinal听atrophy.听
Retinal Detachment
Surgery听to repair the retina听is the main course of action if somebody suffers from a retinal detachment.听听
Vitreous Haemorrhage
Surgical and laser treatment also are viable treatments for patients who develop a vitreous haemorrhage, although it can take months for the blood to clear.听听
Nystagmus
Nystagmus can be alleviated to some extent with a host of treatments including Botox injections, however these may only temporarily relieve symptoms.
听
There are no cures for Microcornea and听Nanopthalmos,听instead听treatment听focuses听on alleviating symptoms and reducing further complications.听
Research听into treatments for ADVIRC is ongoing. Patients are encouraged to visit the many听charities and support groups for听bestrophinopathies.听