What are retinal dystrophies?
Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision and subsequent progression to complete blindness.
What causes Stargardt’s disease?
Stargardt disease is usually caused by changes in a gene called ABCA4. This gene affects how your body uses vitamin A. The body uses vitamin A to make cells in the retina (the light-sensitive layer of tissue at the back of the eye). Then the ABCA4 gene makes a protein to clean up the fatty material that’s left over.
What causes retinal atrophy?
The retinal tissue that becomes atrophied may be due to any one of many rare disorders, however retinitis pigmentosa is the most common type. The cause of retinal atrophy is often because of defective genes.
What does Vitelliform mean?
Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina , the specialized light-sensitive tissue that lines the back of the eye.
What does Choroideremia mean?
Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood.
Can macular dystrophy be cured?
There is no cure or known treatment to stop the progression of adult-onset vitelliform macular dystrophy. Management usually includes a comprehensive eye examination once or twice a year to monitor progression of the disease and for complications such as choroidal neovascularization ( CNV ).
Is Stargardt disease an autoimmune disease?
Stargardt disease is the most common inherited single-gene retinal disease. It usually has an autosomal recessive inheritance caused by mutations in the ABCA4 gene. Rarely it has an autosomal dominant inheritance due to defects with ELOVL4 or PROM1 genes….
| Stargardt disease | |
|---|---|
| Diagnostic method | Slit-lamp |
| Treatment | None |
How is retinal atrophy treated?
Unfortunately, there is no cure available for progressive retinal atrophy. Identification of affected breeding animals is essential to prevent the spread of the condition within the breed.
What are the symptoms of retinal atrophy?
Symptoms
- Loss of side vision (peripheral vision), otherwise known as ‘tunnel vision’
- Loss of central vision (in advanced cases)
- Reduced ability to see at night, otherwise known as ‘night blindness’
- Diminished ability to see in dimly lit conditions.
What is a Vitelliform lesion?
Purpose : Acquired vitelliform lesions (AVL) represent an accumulation of yellowish subretinal material and are well described in Best’s vitelliform macular dystrophy and adult foveomacular vitelliform dystrophy. The AVLs have also been reported with age-related macular degeneration (AMD).
Is macular degeneration the best disease?
Best disease, also known as vitelliform macular dystrophy, is an inherited retinal disease causing macular degeneration. The retina is a thin piece of tissue lining the back of the eye. Rod and cone photoreceptors in the retina convert light into electrical signals that the brain interprets as vision.
What gene causes choroideremia?
Carrier females usually do not display symptoms, because females have two X chromosomes and only one carries the altered gene. Males have one X chromosome that is inherited from their mothers; if a male inherits an X chromosome that contains the altered gene, he will develop the disease.
