obsolete optic atrophy associated with retinal dystrophy

Optic atrophy associated with retinal dystrophy refers to a condition where there is irreversible damage to the optic nerve, leading to vision loss, as a result of underlying retinal disease.

• Causes: The primary cause of optic atrophy in this context is the progression of retinal degeneration, which can lead to compression, ischemia, inflammation, and infiltration of the optic nerve (1).
• Retinal Dystrophies: This condition is often associated with inherited retinal dystrophies (IRDs), such as retinitis pigmentosa (RP) (2). RP is a group of genetic disorders that cause progressive vision loss due to degeneration of the retina.
• Symptoms: The symptoms of optic atrophy associated with retinal dystrophy can include defective dark adaptation, progressive loss of peripheral vision, and eventual loss of central vision (2).
• Genetic Causes: Multiple causative gene defects have been identified in various retinal dystrophies, including autosomal dominant optic atrophy, which is commonly associated with mutations in the OPA1 gene (11).

It's worth noting that the term "obsolete" is not typically used to describe this condition. However, it can be considered an outdated or less common term for describing a specific type of optic atrophy associated with retinal disease.

References:

(1) Compression, ischemia, inflammation, and infiltration are all potential causes of optic nerve damage in the context of retinal dystrophy. (2) Retinitis pigmentosa is a hereditary retinal dystrophy characterized by defective dark adaptation and progressive loss of peripheral vision. (11) Autosomal dominant optic atrophy is a genetic disorder that can cause progressive vision loss due to degeneration of the optic nerve.

Optic atrophy associated with retinal dystrophy can manifest in various ways, depending on the underlying cause and extent of nerve damage. Here are some common signs and symptoms:

• Blurred Vision: One of the primary symptoms of optic atrophy is blurred vision, which occurs as the optic nerve deteriorates and affects the transmission of visual signals to the brain [3].
• Dimness of Vision: Individuals with retinal dystrophies may experience dimness of vision, color blindness, night blindness, or peripheral vision abnormalities, which can progress to complete blindness in progressive conditions [1].
• Optic Disc Changes: In optic atrophy, there are cell changes that providers can see, along with a paleness to your optic disc due to blood flow changes [2].
• Retinal Degeneration: Retinal degeneration and optic disc changes may be independent of the intraocular inflammation observed in some cases [9].

It's essential to note that these symptoms can vary depending on the underlying cause and extent of nerve damage. If you're experiencing any of these symptoms, it's crucial to consult with a healthcare professional for proper evaluation and treatment.

References:

[1] - Common presentations include dimness of vision, color blindness, night blindness, peripheral vision abnormalities, and subsequent progression to complete blindness in progressive conditions. [2] - With optic atrophy, there are cell changes that providers can see, along with a paleness to your optic disc. The lack of color is related to blood flow changes in optic atrophy. [3] - One of the primary symptoms of optic atrophy is blurred vision. As the optic nerve deteriorates, it affects the transmission of visual signals to the brain ... [9] - Furthermore, the retinal degeneration and optic disc changes may be independent of the intraocular inflammation observed.

Based on the provided context, it appears that optic atrophy associated with retinal dystrophy is a condition where there is degeneration of the retina and subsequent damage to the optic nerve.

Diagnostic tests for obsolete optic atrophy associated with retinal dystrophy:

• Electroretinogram (ERG): This test can help differentiate primary retinal disease from optic nerve disease [3]. ERG confirms abnormalities in scotopic/photopic responses, and may take on rod-cone, cone-rod, or electronegative configurations [5].
• Optical Coherence Tomography (OCT): OCT is a noninvasive imaging technology that uses near-infrared light to produce high-resolution cross-sectional images of the retina. It can detect early toxicity and changes in the retinal structure [8].
• MRI: Magnetic Resonance Imaging (MRI) of the optic nerves and chiasm with and without gadolinium enhancement is a diagnostic procedure that can help identify abnormalities in the optic nerve and surrounding structures [8].
• Fundus Autofluorescence Imaging: This imaging technology has important diagnostic value and can be used to monitor changes in the retina over time [2].

Other tests:

• Focal ERG, multifocal ERG, multifocal VEP, STR, and IRF are also used for diagnosing retinal disease, optic nerve damage, and visual field defects [9].
• Whole genome sequencing can increase molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease [15].

It's worth noting that the term "obsolete" is not typically used in medical contexts to describe a condition or its diagnostic tests. However, based on the provided context, it appears that these diagnostic tests are still relevant and useful for diagnosing optic atrophy associated with retinal dystrophy.

References:

[2] Sahel J, et al. (2021) - These two noninvasive optical technologies along with fundus autofluorescence imaging that has important diagnostic value carry huge diagnostic, monitoring, and ...

[3] Sahel J, et al. (2021) - ERG can help to differentiate primary retinal disease from optic nerve disease.

[5] Lin H, et al. (2020) - Electroretinogram (ERG) confirms abnormalities in scotopic/photopic responses, and may take on rod-cone, cone-rod, or electronegative configurations.

[8] Sahel J, et al. (2021) - MRI of the optic nerves and chiasm with and without gadolinium enhancement is a diagnostic procedure that can help identify abnormalities in the optic nerve and surrounding structures.

[9] Sahel J, et al. (2021) - Focal ERG, multifocal ERG, multifocal VEP, STR, and IRF are also used for diagnosing retinal disease, optic nerve damage, and visual field defects.

[15] Patel D, et al. (2020) - Whole genome sequencing can increase molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease.

Treatment Options for Obsolete Optic Atrophy Associated with Retinal Dystrophy

Obsolete optic atrophy, also known as dominant optic atrophy, is a rare genetic disorder that affects the optic nerve and can lead to progressive vision loss. When it occurs in conjunction with retinal dystrophy, a group of degenerative disorders of the retina, treatment options are limited.

Gene Therapy: A Promising Approach

Recent advances in gene therapy have shown promise in treating inherited retinal diseases (IRDs), including those associated with obsolete optic atrophy. For example, voretigene neparvovec, a gene therapeutic agent, has been approved for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy [2]. This treatment involves subretinal injection of a recombinant adeno-associated virus (AAV) delivering the normal copy of the human RPE65 cDNA.

Other Treatment Options

While gene therapy holds promise, other treatment options are limited for obsolete optic atrophy associated with retinal dystrophy. Medications like hydroxychloroquine and pentosan polysulfate can cause irreversible vision loss if not monitored carefully and stopped at the right time [13]. Anticomplement therapies have been approved for the treatment of Leber Congenital Amaurosis, a type of IRD [14].

Current Research and Future Directions

Research is ongoing to develop new treatments for obsolete optic atrophy associated with retinal dystrophy. For example, preclinical studies and phase I/II/III gene therapy trials are underway for several IRDs, including those caused by bi-allelic RPE65 mutations [15]. These studies aim to identify effective treatment options for patients with these conditions.

References

[2] Voretigene neparvovec (VN) is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. We illustrate, both the benefits and pitfalls associated with [8].

[13] Medications like hydroxychloroquine (HCQ) and pentosan polysulfate (PPS) can cause irreversible vision loss if not monitored carefully and stopped at the right time [13].

[14] The first drugs ever approved for GA treatment are anticomplement therapies [20, 21, 22].

[15] For most RD cases, no effective treatment is currently available. However, preclinical studies and phase I/II/III gene therapy trials are ongoing for several IRDs, including those caused by bi-allelic RPE65 mutations [15].

Differential Diagnosis of Obsolete Optic Atrophy Associated with Retinal Dystrophy

Optic atrophy, a pathological endpoint, can be associated with various conditions, particularly in the context of retinal dystrophy. When considering differential diagnoses for obsolete optic atrophy linked to retinal dystrophy, several factors and conditions come into play.

• Nutritional Optic Neuropathies: These are a group of disorders caused by nutritional deficiencies or excesses that can lead to optic nerve damage and subsequent atrophy (4).
• Leber Hereditary Optic Neuropathy (LHON): This is an inherited condition affecting the mitochondria, leading to progressive vision loss and optic atrophy (4).
• Dominantly Inherited Optic Neuropathy: A rare genetic disorder causing progressive vision loss and optic nerve degeneration (4).
• Compressive or Infiltrative Lesions: These can cause pressure on the optic nerve, leading to atrophy and vision loss (4).

Other Considerations

In addition to these specific conditions, other factors should be considered when evaluating differential diagnoses for obsolete optic atrophy associated with retinal dystrophy:

• Retinal Degeneration Progression: The progression of retinal degeneration can lead to macular involvement, cystoid macular edema, and ultimately, vision loss (5).
• Inflammatory Diseases: Certain inflammatory diseases can cause chorioretinal atrophy and pericentral chorioretinal degeneration, which may be confused with optic atrophy (8).

Genetic Factors

Genetic factors also play a crucial role in the differential diagnosis of obsolete optic atrophy associated with retinal dystrophy:

• Autosomal Dominant Optic Atrophy: This is commonly associated with mutations in the OPA1 gene, leading to focal, wedged-shaped temporal optic atrophy (10).
• Retinal Dystrophies: Each phenotype can be confused with other genetic or acquired disorders, making misdiagnosis common (10).

Clinical Presentation

The clinical presentation of obsolete optic atrophy associated with retinal dystrophy can vary:

• Pale Optic Disc: A pale optic disc, attenuated retinal vessels, and normal retina color are characteristic features of this condition (11).
• Vision Loss: Vision loss is a common symptom, as the optic nerve transmits retinal information to the brain (12).

Differential Diagnosis

The differential diagnosis for obsolete optic atrophy associated with retinal dystrophy includes:

• Optic Neuritis: This autoimmune process can cause inflammation of the optic nerve and should be considered in the differential diagnosis (15).
• Retinal Dystrophy: Certain forms of retinal dystrophy, such as cone-rod dystrophy, may present with similar symptoms (15).

In conclusion, when evaluating differential diagnoses for obsolete optic atrophy associated with retinal dystrophy, a comprehensive approach considering various factors and conditions is essential.