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optic atrophy 2

ICD-10 Codes

Related ICD-10:

Description

Optic atrophy 2, also known as early-onset x-linked optic atrophy, is a rare form of optic atrophy that affects males and can cause vision loss and some neurological conditions.

This condition is characterized by the degeneration of the optic nerve, leading to visual impairment. The exact causes of optic atrophy 2 are not well understood, but it is believed to be related to genetic mutations that affect the functioning of the optic nerve.

Symptoms of optic atrophy 2 may include:

  • Vision loss or dimming
  • Reduced field of vision
  • Loss of fine detail and color perception

It's worth noting that optic atrophy 2 is a rare condition, and more research is needed to fully understand its causes and effects. However, it is an important consideration for individuals who are experiencing visual symptoms and should be discussed with a healthcare provider.

[3][4]

Additional Characteristics

  • Vision loss
  • Reduced field of vision
  • Optic nerve degeneration
  • Loss of fine detail and color perception

Signs and Symptoms

Optic atrophy 2, also known as early-onset x-linked optic atrophy, is a rare form of optic atrophy that affects males. The symptoms of this condition can vary in severity and may include:

  • Vision loss: A gradual decline in vision, which can be mild to severe [1].
  • Blurred vision: Difficulty seeing objects or people clearly, even with glasses or contact lenses [2].
  • Color vision deficiency: Trouble distinguishing between certain colors, such as red and green [3].
  • Decreased brightness: A decrease in the intensity of light perceived by the eye [4].
  • Abnormal color perception: Seeing colors that are not actually present, or perceiving colors differently than others do [5].

It's worth noting that optic atrophy 2 can also be associated with other neurological conditions, such as muscle weakness and coordination problems. If you're experiencing any of these symptoms, it's essential to consult a healthcare professional for proper evaluation and diagnosis.

References: [1] - Optic atrophy 2 (early-onset x-linked optic atrophy) [result 2] [2] - Optic nerve atrophy causes vision to dim and reduces the field of vision. The

Additional Symptoms

Diagnostic Tests

To diagnose optic atrophy, several diagnostic tests can be performed to help determine the underlying cause and extent of the condition.

Visual Field Testing Visual field testing is a crucial test in diagnosing optic atrophy. It helps to localize the location of the lesion and assess the extent of visual field loss. The Humphrey 30-2 and Tangent Screen are two common types of visual field tests used for this purpose [7][10].

Optical Coherence Tomography (OCT) OCT is a non-invasive imaging test that uses low-coherence interferometry to capture high-resolution images of the retina. It can help assess the thickness of the peripapillary retinal nerve fiber layer and/or ganglion cell layer, which are often affected in optic atrophy [8].

Other Diagnostic Tests In addition to visual field testing and OCT, other diagnostic tests may be performed to rule out underlying causes of optic atrophy. These include:

  • MRI of the brain and orbits with contrast to look for sinusitis, hyperpneumatized sinuses, fibrous dysplasia, or other space-occupying lesions [3]
  • Lab tests such as angiotension converting enzyme, fluorescent treponemal antibody absorption test (FTA-ABS), Lyme titer, and cat scratch titer to rule out infectious causes [5][11]
  • Color vision testing, pupil light reflex, tonometry, visual acuity, and visual field (side vision) test to assess optic nerve function [7][13]

Comprehensive Eye Exam A comprehensive eye exam is necessary to determine the cause of optic atrophy. This includes a complete medical history, assessment of systemic diseases, and examination of the eyes using an ophthalmoscope [4][14].

It's essential to note that early detection and diagnosis are critical for prompt intervention and better management of optic atrophy. A multidisciplinary approach is often required to manage this condition effectively.

References: [3] - Context result 3 [5] - Context result 5 [7] - Context result 7 [8] - Context result 8 [10] - Context result 10 [11] - Context result 11 [13] - Context result 13 [14] - Context result 14

Additional Diagnostic Tests

  • Optical Coherence Tomography (OCT)
  • Comprehensive Eye Exam
  • Visual Field Testing
  • MRI of the brain and orbits with contrast
  • Lab tests such as angiotension converting enzyme, fluorescent treponemal antibody absorption test (FTA-ABS), Lyme titer, and cat scratch titer
  • Color vision testing, pupil light reflex, tonometry, visual acuity, and visual field (side vision) test

Treatment

Treatment Options for Optic Atrophy

While there is no cure for optic atrophy, various treatment options are available to manage the condition and improve visual function.

  • Idebenone: A quinone analog that has been clinically proven to be effective in treating Leber hereditary optic neuropathy (LHON), a rare genetic disorder that can cause optic atrophy [5].
  • Acupuncture: Some studies have reported that acupuncture may be effective for the treatment of optic atrophy, although more research is needed to confirm its efficacy [8].
  • Treatment of underlying disease: The most important aspect of treating optic atrophy is to identify and treat the underlying disease or condition causing it. This can help slow down or halt further vision loss.
  • No effective pharmacological treatment: Unfortunately, pharmacological treatment for optic atrophy has been largely ineffective in reversing the damage [12].

It's essential to note that each case of optic atrophy is unique, and the most effective treatment approach may vary depending on the underlying cause and individual circumstances.

References:

[5] Idebenone, a quinone analog, has been used and is the only clinically proven drug in the treatment of Leber hereditary optic neuropathy. [8] by P Zhou · 2019 · Cited by 4 — Presently, no effective management is available for this condition. Previous studies have reported that acupuncture may be effective for the treatment of OPA. [12] The only focus in management is treating the exact cause before the development of significant damage to salvage useful vision.

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Differential Diagnosis

Differential Diagnoses of Optic Atrophy

Optic atrophy can be caused by various underlying conditions, and a comprehensive differential diagnosis is essential for accurate identification. Here are some key differentials to consider:

  • Axial myopia: This condition can cause changes in the optic disc, including pallor and cupping, which may mimic optic atrophy.
  • Inflammatory optic neuropathy: Conditions such as multiple sclerosis or sarcoidosis can lead to inflammation of the optic nerve, resulting in optic atrophy.
  • Ischaemic (vascular) optic neuropathy: This condition is caused by a lack of blood flow to the optic nerve, leading to damage and eventual atrophy.
  • Compressive optic neuropathy: Compression of the optic nerve, often due to tumors or other masses, can cause optic atrophy.

According to [5], differential diagnoses for the pale/white/atrophic disc include:

  • Inflammatory optic neuropathy
  • Ischaemic (vascular) optic neuropathy
  • Compressive optic neuropathy

Additionally, disorders such as thyroid ophthalmopathy, juvenile diabetes mellitus, nutritional amblyopia, and toxic amblyopia can also be considered in the differential diagnosis of optic atrophy [7].

It's essential to note that a complete ophthalmic examination, including a comprehensive history, will lead to an underlying diagnosis in 92% of cases of optic atrophy [11].

Additional Differential Diagnoses

  • Compressive optic neuropathy
  • Thyroid ophthalmopathy
  • Juvenile diabetes mellitus
  • Nutritional amblyopia
  • Toxic amblyopia
  • Axial myopia
  • Inflammatory optic neuropathy
  • Ischaemic (vascular) optic neuropathy

Additional Information

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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.