optic atrophy 7

Optic Atrophy 7 (OPA7) Description

Optic atrophy 7, also known as OPA7, is a rare hereditary disorder characterized by severe and progressive visual impairment, optic disc pallor, central scotoma, dyschromatopsia, and auditory neuropathy [14]. This condition may also involve sensorimotor axonal neuropathy and hypertrophic cardiomyopathy.

Key Features:

• Early-onset, severe, and progressive visual impairment
• Optic disc pallor
• Central scotoma (blind spot in the center of vision)
• Dyschromatopsia (difficulty perceiving colors)
• Auditory neuropathy (nerve damage affecting hearing)
• Sensorimotor axonal neuropathy (nerve damage affecting sensation and movement)
• Hypertrophic cardiomyopathy (enlarged heart muscle)

References:

[14] - Optic atrophy 7 with or without auditory neuropathy is a rare hereditary disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor, central scotoma, dyschromatopsia, and auditory neuropathy. It may also involve sensorimotor axonal neuropathy and hypertrophic cardiomyopathy.

Vision Loss and Other Symptoms

Optic atrophy can cause significant vision loss, which can be permanent if left untreated. The symptoms of optic atrophy may vary depending on the underlying cause and the extent of nerve damage. Here are some common signs and symptoms:

• Diminished Vision: A decrease in visual acuity, making it difficult to see fine details or read.
• Blurred Vision: A cloudy or hazy appearance of vision, which can be temporary or permanent.
• Color Vision Changes: Abnormal color perception, such as seeing colors as faded or altered.
• Decreased Brightness: A decrease in the intensity of light perceived by the eye.

According to search result [7], optic nerve atrophy (OA) can also cause damage to peripheral vision and color vision. It's essential to seek medical attention if you experience any of these symptoms, as early treatment can help prevent further vision loss.

References: * Search result 3: "Optic nerve atrophy causes vision to dim and reduces the field of vision." * Search result 7: "Optic nerve atrophy (OA) is damage to the optic nerve that can cause damage to the vision in the center, peripheral vision (side vision) and color vision."

Diagnostic Tests for Optic Atrophy

Optic atrophy, also known as optic neuropathy, can be diagnosed through a combination of medical history, physical examination, and various tests.

• Complete Eye Exam: A comprehensive eye exam with an ophthalmologist is necessary to determine the cause of optic atrophy. This includes a complete medical history, assessment of visual function, and evaluation of the optic nerve.
• Vision Testing: Tests such as color vision, pupil light reflex, tonometry, visual acuity, and visual field (side vision) test can help diagnose optic atrophy.
• MRI Scan: An MRI scan of the head is often used to detect damage or abnormalities in the brain that may be causing the optic atrophy. This scan uses a magnetic field and radio waves to produce detailed images of the brain and optic nerves.

According to search result [7], testing usually includes vision, pupil reaction to light, checking eye movements for eye alignment, and other tests to determine the cause of optic atrophy.

Additionally, as mentioned in search result [9], an MRI scan is often used to diagnose optic atrophy because it can detect damage or abnormalities in the brain that may be causing the condition.

Unfortunately, there is no cure or effective treatment for optic atrophy. Once the nerve fibers are damaged, they cannot regenerate. However, early detection of the underlying disease can help limit further damage and slow down vision loss [7][14].

Idebenone, a quinone analog, has been used in the treatment of Leber hereditary optic neuropathy, but it is not effective for other types of optic atrophy [5]. The focus in management is treating the exact cause before the development of significant damage to salvage useful vision [12].

Currently, there are no pharmacological treatments available that can effectively treat optic atrophy. Any treatment options available are aimed at managing the condition and improving visual function, but they do not reverse the damage already done [13].

Differential Diagnoses of Optic Atrophy

Optic atrophy can be caused by various conditions, and a comprehensive differential diagnosis is essential for accurate diagnosis. Here are some possible causes:

• Thyroid Ophthalmopathy: This condition is characterized by swelling or inflammation of the tissues around the eye, which can lead to optic nerve compression and atrophy.
• Juvenile Diabetes Mellitus: Uncontrolled diabetes can cause damage to the blood vessels in the retina, leading to optic neuropathy and atrophy.
• Nutritional Amblyopia: Deficiencies in essential nutrients such as vitamin B12 or thiamine can cause damage to the optic nerve, leading to atrophy.
• Toxic Amblyopia: Exposure to toxins such as tobacco smoke or certain chemicals can cause damage to the optic nerve, leading to atrophy.
• Compressive Optic Neuropathy: Compression of the optic nerve due to conditions such as tumors, aneurysms, or other space-occupying lesions can lead to optic atrophy.

According to a study published in 2016 [6], the differential diagnoses for a pale/white/atrophic disc include:

• Inflammatory Optic Neuropathy
• Ischaemic (Vascular) Optic Neuropathy
• Compressive Optic Neuropathy

A complete ophthalmic examination, including a comprehensive history, can lead to an underlying diagnosis in 92% of cases of optic atrophy [8].

References: [6] Osaguona VB. Differential diagnoses of the pale/white/atrophic disc. Journal of Clinical Ophthalmology. 2016;10(2):123-126. [7] (Context 7) [8] (Context 8)