Dr. Zuhal Butuner Identifies Hereditary Eye Diseases That Can Cause Blindness
Over 350 genetic eye diseases affect humans; unfortunately, some can lead to blindness. While not all hereditary eye diseases will cause complete vision loss, many patients will fall into the low vision category with some impairment of visual functioning. Some of the common hereditary eye diseases include albinism, retinitis pigmentosa, retinopathy of prematurity, achromatopsia, corneal dystrophies, retinal dystrophies, Leber congenital amaurosis, glaucoma, and keratoconus. Dr. Zuhal Butuner says these diseases can significantly impact an individual’s quality of life and require specialized medical attention and care. Those with a family history of these conditions must receive regular eye exams to monitor and prevent vision loss.
Retinitis Pigmentosa (RP)
Retinitis pigmentosa is among the many hereditary eye diseases that affect the retina and can lead to blindness in both eyes. Unlike many other ocular conditions, this disease can be passed on in different types of inheritance, including X-linked, autosomal dominant, and autosomal recessive traits. The disease affects the photoreceptor cells that transmit light signals to the brain for visual perception. The mutation in the RP gene leads to a faulty formation of photoreceptors, eventually resulting in vision loss. This condition can devastate those affected, making simple daily activities like reading, driving, or watching TV difficult.
Dr. Zuhal Butuner explains that this condition develops slowly over time and typically shows symptoms after age 10. The first sign is often difficulty seeing at night due to the degeneration of the rods’ photoreceptors responsible for night vision. Patients might experience trouble finding objects or bumping into things. They may also complain about being unable to see at the periphery (side vision), leading to tunnel vision. Sadly, this tunnel vision can progress to complete vision loss over time. It’s important to take any unusual vision problems seriously, particularly in children, as they might be the symptoms of RP, especially if there is a family history. While this disease has no cure, many clinical trials are underway. Patients with a diagnosis or family history of RP should speak to their eye care specialists,
The eye’s crystalline lens is an essential component responsible for the clear focus of light on the retina. Unfortunately, some individuals are born with congenital cataracts, where the lens is clouded from birth. This condition can be passed down from parents to children due to a genetic component. Those with a family history of congenital cataracts have a higher chance of developing the condition. Additionally, how a fetus develops during pregnancy can also contribute to the presence of congenital cataracts. While the mechanism behind this phenomenon is not entirely understood, it is clear that early diagnosis is crucial in managing the condition’s impact on vision.
Congenital cataract is a concerning eye condition that can have different forms depending on the location of the lens clouding. When the area affected is at the center and obstructs vision, it is crucial to remove the affected lens. When left untreated, the lens can hinder the passage of light rays to the retina, leading to an underdevelopment of the vision pathways from the eye to the brain. Therefore, Dr. Zuhal Butuner mentions it’s crucial to seek prompt medical attention if an infant’s eyes or vision appears strange to a parent. Treatment involves the removal of the cataract.
Juvenile Macular Degeneration (JMD)
Juvenile macular degeneration is a hereditary eye disease commonly known as Stargardt’s, Stargardt’s macular dystrophy, or fundus flavimaculatus. Although the disease is associated with various names, its devastating impact on the vision of those affected cannot be denied. As a result of mutations in the ABCA4 gene, which is an autosomal recessive trait, individuals with Stargardt’s disease experience a gradual loss of vision that ultimately leads to vision loss and blindness. The ABCA4 gene plays a crucial role in clearing away vitamin A by-products in photoreceptor cells of the macula, which is the central part of the retina responsible for crisp vision. Without this vital protection, the macula deteriorates, leading to severe vision impairment.
Dr. Zuhal Butuner says the gradual death of macular cells, caused by the accumulation of vitamin A by-products or lipofuscin, leads to a loss of central vision, color vision, and depth perception. What’s particularly alarming about this condition is that the damage is permanent and irreversible. To add to the complexity of this eye disease, it is highly genetically susceptible, meaning that individuals with a family history of macular degeneration are at an increased risk of developing it. Luckily, potential treatments are being investigated for this genetic disease.
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