Retinal Degenerations Associated With Systemic Diseases
There are a variety of inherited retinal degenerations (IRDs) that can affect the eye. Some can occur in isolation, but others occur in association with other systemic diseases. In such cases, the ocular manifestations may only appear later, after the disease has already manifested in other organ systems. Early diagnosis is key to improving patient outcomes. Molecular testing can be helpful for a definitive diagnosis.
Which systemic disease can affect the eye?
Many systemic diseases have ocular manifestations, and it is important to recognize them for early diagnosis. Many ocular symptoms overlap with other symptoms of disease states. An ocular examination can aid in differential diagnosis, which can lead to timely treatment and avoidable complications. This article covers some common ocular manifestations of systemic diseases and offers tips on how to perform an examination to detect them. In addition, it discusses the signs and symptoms of these conditions.
Systemic diseases are chronic illnesses that affect several organs and systems throughout the body. The eye is particularly susceptible to many of these diseases, and an eye examination can be the first step in diagnosing them. Because the eye is composed of so many different types of tissue, it is an excellent source of information about many different organ systems. Systemic diseases may present signs or symptoms on any part of the eye, including the outer surface, the middle, and the back.
What is the most common retinal dystrophy?
Retinal dystrophy is a progressive, degenerative disease that affects the retina. The disease first affects the rods and then moves to the cones, eventually causing vision loss. There is a high degree of genetic and clinical heterogeneity in retinal dystrophy, and the prognosis varies widely. Some dystrophies are sporadic, while others are syndromic. Regardless of the cause, it is important to visit a retinal specialist for an evaluation and proper diagnosis.
This disease can cause vision loss, deterioration in night vision, and blindness. While there is no cure, there are treatments that can improve a patient’s quality of life. For example, researchers are currently testing new drugs in clinical trials.
What does retinal dystrophy mean?
A retinal dystrophy is a group of degenerative eye conditions that have a broad range of clinical manifestations. They may be syndromic or non-syndromic and can result in impaired vision ranging from poor peripheral vision to complete blindness. The severity of these conditions typically increases with age. Genetic studies have identified more than 120 genes associated with retinal dystrophy.
Inherited retinal dystrophy is most often associated with progressive vision loss. This condition is usually inherited and passed on to children by one or both parents. Symptoms can include night blindness, vision loss, or sensitivity to light. Although there is no cure for this condition, doctors can help their patients by using certain medications or surgeries. In some cases, gene therapy drugs may be used to treat the condition. These drugs, similar to those used to treat leukemia, work by adding new genes to replace the ones that are defective.
What causes degeneration of the retina?
There are various causes of retinal degeneration, from genetic factors to environmental factors. Inflammation plays an important role in these disorders. Genes responsible for inflammatory reactions include the CFH gene, which contributes to the risk for age-related macular degeneration. Genes related to anti-inflammatory responses also contribute to this risk. Prolonged inflammation results in retinal damage. Genes regulate inflammation at the transcriptional and translational levels.
Traditionally, the cause of retinal degeneration has been associated with apoptosis, necroptosis, and pyroptosis. In more recent studies, however, the role of the NLRP3 inflammasome has been implicated. Inflammation and photoreceptor cell death are interdependent processes, and targeted therapies may slow the progression of these disorders.
Is retinal dystrophy progressive?
There are a number of hereditary diseases that lead to retinal dystrophy, most of which involve the pigment epithelium. These disorders often cause secondary atrophy of the choriocapillaris and result in loss of peripheral vision. One type of retinal dystrophy is called choroideremia, which results in degeneration of the optic nerve and is associated with a progressive loss of peripheral field of vision and night blindness. Symptoms may start in childhood or can develop in early adulthood.
Genetic testing may be helpful in confirming a diagnosis and determining eligibility for investigational gene therapies. In approximately 60% to 80% of patients with IRD, a causative mutation may be identified. Initial testing can be completed with a saliva sample. Alternatively, patients can be tested at a CLIA-approved gene sequencing lab.
