Treatment Overview
Living with Late Onset Retinal Degeneration (L-ORD) presents a unique set of challenges, particularly because symptoms typically appear later in life, often in the fifth or sixth decade. Individuals may first notice difficulty seeing in low light or driving at night, which can progress to a loss of central vision that affects reading and recognizing faces. This transition can be frustrating and anxiety-inducing, as it requires adapting to a “new normal” after decades of stable vision. While the condition is genetic and progressive, understanding the management options can provide a sense of control.
Treatment is essential not to cure the underlying genetic cause which is currently not possible but to manage complications that threaten remaining sight. The primary goal of medical intervention is to address choroidal neovascularization (CNV), a complication where abnormal blood vessels grow under the retina. Because the rate of progression and the development of complications vary significantly from person to person, monitoring and treatment plans are highly individualized based on the specific changes observed in the eye (National Eye Institute, 2023).
Overview of treatment options for Late Onset Retinal Degeneration
Currently, there is no FDA-approved medication to stop or reverse the genetic mutation (C1QTNF5) responsible for L-ORD. Therefore, the treatment approach is reactive and supportive. The management strategy focuses heavily on preserving vision by treating the “wet” complications that mimic age-related macular degeneration.
When abnormal blood vessels develop and begin to leak fluid or bleed (neovascularization), pharmacological treatment becomes the first line of defense. This is distinct from the management of the “dry” or atrophic stages, for which treatment options are currently limited to low vision aids and lifestyle support. The use of medication is typically reserved for acute phases where active bleeding or leakage is detected, rather than as a daily preventative measure for the genetic condition itself.
Medications used for Late Onset Retinal Degeneration
The primary class of medications used to manage the neovascular complications of L-ORD is anti-vascular endothelial growth factor (anti-VEGF) agents. These are the same medications successfully used to treat wet age-related macular degeneration and diabetic retinopathy.
Commonly used drugs in this class include bevacizumab, ranibizumab, and aflibercept. These medications are not taken as pills; they are administered via an intravitreal injection directly into the eye by an ophthalmologist or retinal specialist.
Clinical experience suggests that these medications are highly effective at drying up leaking fluids and halting the growth of abnormal vessels. Patients typically receive these injections on a schedule, which may start as monthly treatments and then be spaced out (known as “treat and extend”) as the condition stabilizes. While these drugs do not fix the underlying retinal degeneration, they are critical for preventing rapid central vision loss caused by bleeding (American Academy of Ophthalmology, 2022).
How these medications work
Anti-VEGF medications work by targeting a specific protein produced by the body called Vascular Endothelial Growth Factor (VEGF). In healthy bodies, VEGF helps generate new blood vessels. However, in conditions like L-ORD where the retina is under stress, the eye produces too much VEGF, triggering the growth of fragile, abnormal vessels that leak fluid and blood.
By blocking this protein, anti-VEGF drugs stop the signal that tells these bad vessels to grow. This reduces vascular leakage, decreases retinal swelling, and prevents the formation of scar tissue. Keeping the retina dry and flat is crucial for preserving the photoreceptor cells responsible for sharp central vision (Macular Society, 2021).
Side effects and safety considerations
Since these injected medications are delivered, the most common side effects are procedure-related: temporary eye pain, gritty sensations, red spots (hemorrhage), or “floaters” may occur immediately after the injection.
Serious, rare complications requiring immediate attention include endophthalmitis (severe eye infection), retinal detachment, or traumatic cataracts. Systemic side effects (stroke, heart attack) are theoretically possible but extremely rare. Patients must seek immediate care for severe, non-improving pain, sudden vision loss, or extreme light sensitivity post-appointment.
Since everyone’s experience with the condition and its treatments can vary, working closely with a qualified healthcare provider helps ensure safe and effective care.
References
- American Academy of Ophthalmology. https://www.aao.org
- National Eye Institute. https://www.nei.nih.gov
- Macular Society. https://www.macularsociety.org
- National Institutes of Health. https://www.nih.gov
Medications for Late-Onset Retinal Degeneration
These are drugs that have been approved by the US Food and Drug Administration (FDA), meaning they have been determined to be safe and effective for use in Late-Onset Retinal Degeneration.