Retinal Dystrophy and Vision: Treatment in the Context of Neurological Diseases

Introduction: The Retina as a Mirror of Neurological Processes

The retina is a thin, light-sensitive tissue lining the back of the eye that plays a key role in vision formation. Any changes or damage to the retina can significantly affect visual function, leading to impairment or vision loss. Although the term "retinal dystrophy" is often associated with primary genetic or age-related diseases such as macular degeneration, it is important to understand that the state of the retina can also be an indicator and consequence of various systemic and neurological diseases. In such cases, treatment is aimed not only at the retina itself but also at the underlying disease.

In this article, we will examine how certain neurological conditions, particularly multiple sclerosis and idiopathic intracranial hypertension, affect retinal health and what treatment approaches are used to preserve vision, based on data from recent scientific studies.

Retinal Atrophy in Multiple Sclerosis: A Marker of Neurodegeneration

Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system that affects the brain, spinal cord, and optic nerves. Retinal atrophy, especially thinning of the ganglion cell-inner plexiform layer (GCIPL), is an important marker of global neurodegeneration and the degree of disability in MS [6]. Studies show that thinning of the peripapillary retinal nerve fiber layer (pRNFL) also correlates with disease progression [6, 7].

Thinning of retinal layers, determined by optical coherence tomography (OCT), is associated with disability progression and treatment failure in relapsing MS. For example, a reduction in pRNFL thickness of ≥1.0 μm/year or GCIPL of ≥0.5 μm/year can predict confirmed disability progression [7]. These measurements allow physicians not only to track the course of the disease but also to evaluate the effectiveness of therapy.

Natalizumab: Impact on Retinal Health in MS

Natalizumab is a drug used to treat relapsing-remitting multiple sclerosis (RRMS). It effectively reduces the frequency of relapses and slows the progression of disability. However, there is a risk of developing progressive multifocal leukoencephalopathy (PML), which has led to the development of extended interval dosing (EID) regimens compared to standard interval dosing (SID) [6].

A study conducted in 2026 evaluated whether natalizumab EID affects GCIPL atrophy and other retinal layers (pRNFL, INL, ONL) differently in patients with RRMS. The results showed that retinal atrophy in patients receiving natalizumab was similar with both extended and standard interval dosing [6]. This is an important finding, as it confirms that EID, while reducing the risk of PML, does not lead to a worsening of retinal status compared to standard therapy, allowing for the optimization of MS treatment without compromising eye health.

Papilledema and Idiopathic Intracranial Hypertension: The Role of Acetazolamide

Idiopathic intracranial hypertension (IIH) is a condition characterized by increased cerebrospinal fluid pressure in the skull without an apparent cause. One of the most serious manifestations of IIH is papilledema—swelling of the optic disc, which can lead to irreversible vision loss [8].

As part of the Idiopathic Intracranial Hypertension Treatment Trial (IIHTT), a substudy was conducted using spectral-domain OCT (SD-OCT) to evaluate the effectiveness of papilledema treatment. The goal was to determine changes in papilledema in patients with IIH and mild vision loss receiving acetazolamide combined with weight management or placebo with weight management [8].

Acetazolamide: Therapy for Vision Preservation

Acetazolamide is a diuretic that is often used to lower intracranial pressure in IIH. The IIHTT study showed that acetazolamide combined with weight management effectively reduces papilledema and improves visual function, which was confirmed by measurements of retinal nerve fiber layer (RNFL) thickness using OCT [8]. This approach allows not only for the management of IIH symptoms but also for the prevention of further optic nerve damage and the preservation of vision in patients.

Thus, the timely prescription of acetazolamide combined with weight loss recommendations is a key element in the IIH treatment strategy aimed at protecting visual function and preventing irreversible retinal changes.

A Comprehensive Approach to Vision Preservation in Neurological Diseases

Retinal health is closely linked to the overall state of the nervous system. As the reviewed studies show, changes in the retina can serve as important biomarkers for the diagnosis, monitoring, and evaluation of treatment efficacy for complex neurological diseases such as multiple sclerosis and idiopathic intracranial hypertension.

Preserving vision in these conditions requires a comprehensive approach, including early diagnosis, regular monitoring of retinal status using advanced imaging methods such as OCT, and targeted treatment of the underlying neurological disease. Understanding the relationship between neurological processes and retinal status opens new opportunities for developing more effective treatment strategies and improving the quality of life for patients.

Sources

1. [1] Clinical improvement of photophobia with galcanezumab in episodic and chronic migraine. https://pubmed.ncbi.nlm.nih.gov/42306626/
2. [2] "Not always the magic bullet"-Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome. https://pubmed.ncbi.nlm.nih.gov/41830506/
3. [3] Exploring the rise of the ketogenic dietary therapies for epilepsy in Latin America: A systematic review and meta-analysis. https://pubmed.ncbi.nlm.nih.gov/42097005/
4. [4] Endoscopic corpus callosotomy for drug-resistant epilepsy due to cerebral folate transporter deficiency: illustrative case. https://thejns.org/d
5. [5] Use of medium-chain triglycerides in paediatric patients with drug-resistant epilepsy without ketogenic therapy. https://pubmed.ncbi.nlm.nih.gov/42284873/
6. [6] Retinal atrophy in multiple sclerosis is similar with extended versus standard interval natalizumab therapy. https://pubmed.ncbi.nlm.nih.gov/42571199/
7. [7] Integration of retinal layer thinning into NEDA-3 predicts disability progression in multiple sclerosis. https://pubmed.ncbi.nlm.nih.gov/42262609/
8. [8] Papilledema Outcomes from the Optical Coherence Tomography Substudy of the Idiopathic Intracranial Hypertension Treatment Trial. https://pubmed.ncbi.nlm.nih.gov/26198807/

Disclaimer: The information provided in this article is for reference purposes only and should not be used for self-diagnosis or self-treatment. Always consult a qualified physician for an accurate diagnosis and an individualized treatment plan.