The retina, which is the light-sensitive layer in the back of the eye, is harmed by a group of uncommon disorders called retinal dystrophies. Your brain receives messages from the retina that allow you to see. When a disease is inherited, it runs in families. This condition is often known as inherited retinal degeneration. These diseases frequently harm the retina's rods and cones. Rods improve your night vision. Cones provide color vision and high-resolution central vision.
Inherited retinal disorders (diseases), can result in permanent vision loss or blindness. Each IRD is brought on by at least one dysfunctional gene. Inherited retinal diseases are uncommon, can progress at various speeds, and affect people of all ages. However, many of them are degenerative, implying that the disease and symptoms shows progressive worsening.
Different forms of inherited retinal diseases
Inherited retinal dystrophies come in a variety of forms. The most popular are listed here:
Leber Congenital Amaurosis:
A particular kind of eye condition frequently damages the retina. It is among the oldest varieties of IRD. Early on in a baby's life, Leber congenital amaurosis (LCA) starts to harm the retina and impair eyesight. Your cornea could become thin and conical in shape due to LCA.
A group of IRDs known as cone-rod dystrophy affects both cones and rods. With time, vision loss worsens. The gradual degradation of the cones and rods might cause people to lose their vision. Most of the times, symptoms first appear in children. Typically, photophobia and impaired vision are the first to show up. Later, you can lose your color and peripheral vision and develop central blind spots.
Retinitis pigmentosa (RP):
Retinal light-sensitive cells die as a result of a group of diseases known as retinitis pigmentosa (RP). The initial RP symptom is frequent night blindness. You might develop blind spots in your side vision later, which would eventually impair both your peripheral vision and central vision.
The Macula, the central portion of the retina that aids in seeing straight ahead when reading or driving, is damaged by Stargardt disease, sometimes referred to as Stargardt macular dystrophy. During the teenage years, it may result in central vision loss.
This disease causes progressive visual loss. Night blindness is typically the first symptom. An individual may start losing their capacity to see things in early childhood and eventually acquire tunnel vision. With choroideremia, the vision impairment can get worse over time, although everyone who has this disorder will experience it at a different rate.
What causes IRDs?
IRDs are inherited disorders that are most commonly referred to as hereditary retinal dystrophies. The instructions for how our body's retina cells develop and function are encoded in a gene. A variation or error in one or more genes is the root cause of IRDs. Retinal cells may degenerate if a gene is incorrect, resulting in a protein not being produced correctly or at all. This may result in vision loss as the retinal cells do not function properly.
Although aging and underlying medical disorders are the main causes of most retinal diseases, some are also brought on by genetic abnormalities that are passed down from parents to their children.
Symptoms of IRD/ genetic retinal disease
All IRDs include vision loss as a major symptom. Symptoms of hereditary retinal disease vary depending on the patient and the type of IRD. Some common symptoms include:
- Side vision impairment (bumping into people or objects)
- Having trouble seeing in low light or in the dark
- Difficulty reading, recognizing faces, or watching TV due to diminished central vision
- Difficulty in bright light and glare
- Not differentiating between specific colors or all of their characteristics.
Diagnosis of hereditary retinal dystrophy
Your usual doctor will probably refer you to an ophthalmologist or a retina specialist if they suspect you have an IRD. Your eyes will be examined, scanned, and subjected to numerous eye examinations by an eye care professional.
For genetic counseling, your doctor might advise that you go to a genetic eye clinic. Based on a simple eye examination, specialists occasionally cannot determine which gene is causing IRD. Genetic testing might be offered during your session. This entails the collection and lab testing of a little sample of blood or saliva. Finding the exact gene responsible for your IRD might be possible with genetic testing.
Genetic eye disease treatment
Most IRD types have no proven treatments or cures. The good news is that there are treatments to stop vision deterioration and keep your sight for as long as feasible. The creation of innovative treatments for various IRD subtypes is, however under investigation. Through targeted therapies, some treatments, including gene therapy, hope to slow the progression of the disease and partially restore patient's vision.
Gene therapy's primary objective is compensating for or fixing the defective gene. The eye is small and simple to treat compared to other body parts. Additionally, IRDS are excellent candidates for therapies using gene therapy. You should be aware that gene therapy slows the disease's spread rather than curing it. A modified virus that won't harm the retina's structural integrity is used as a vector to convey the normal gene.
Additionally, gene therapy involves only one administration, as opposed to alternative therapies for retinal diseases that require patients to receive direct injections as frequently as every three months.
At CFS, we are experts in the surgical and medicinal treatment of conditions affecting the retina, macula, and vitreous. Each specialist at CFS has several years of practice. To provide the finest care for disorders that affect vision today, we use the most cutting-edge and modern treatments. The best medical expertise, equipment, and assistance are offered at CFS. We treat our patients with respect, honesty, and kindness.
Article: Inherited Retinal Dystrophy: What Is It?
Author: CFS Editorial Team | Oct 01 2022 | UPDATED 02:07 IST
*The views expressed here are solely those of the author in his private capacity and do not in any way represent the views of Centre for Sight.