congenital nystagmus 6

Rapid, Involuntary Eye Movements

Congenital nystagmus is characterized by rapid, involuntary eye movements that may be side-to-side, up-and-down, or circular in nature [6]. This condition affects the eyes' ability to maintain a steady position, causing them to move constantly and uncontrollably. The movement can vary in speed and direction, but it's often most noticeable when the person is trying to focus on an object or gaze at something specific.

Types of Eye Movements

In congenital nystagmus, the eye movements can take different forms, including:

• Side-to-side movements: This is the most common type, where the eyes move back and forth in a horizontal plane.
• Up-and-down movements: In some cases, the eyes may move up and down instead of side to side.
• Circular movements: Rarely, the eye movements can be circular or rotary in nature.

These rapid, involuntary eye movements can make it difficult for people with congenital nystagmus to focus on objects or maintain a steady gaze. However, they often develop strategies to adapt to their condition and compensate for the eye movements.

Signs and Symptoms of Congenital Nystagmus

Congenital nystagmus, also known as infantile nystagmus, is a type of nystagmus that affects both children and adults. The main symptom of congenital nystagmus is rapid eye movement that cannot be controlled, which can be side to side, up and down, or circular in nature.

• Rapid Eye Movement: Congenital nystagmus is characterized by involuntary, rhythmic eye movements that are often horizontal, but may also be rotary or vertical in nature [7].
• Sensitivity to Light: People with congenital nystagmus may experience sensitivity to light, which can cause discomfort or even pain in bright environments [4].
• Vision Problems: Congenital nystagmus is often associated with vision problems, including blurry and shaky vision [8].

It's worth noting that congenital nystagmus typically starts between 6 weeks and several months of age, and may improve throughout childhood [14]. However, in many cases, there is no treatment for congenital nystagmus.

References: [4] Congenital Nystagmus Symptoms [7] Congenital nystagmus is a horizontal nystagmus with a pendular waveform, but it may be rotary or rarely vertical in nature. [8] Involuntary eye movement. Movement can be in one eye or both. Objects may appear blurry and shaky. Nighttime vision problems or sensitivity to light. Balance ...

Diagnostic Tests for Congenital Nystagmus

Congenital nystagmus, also known as infantile nystagmus syndrome (INS), is a condition characterized by involuntary eye movements. Diagnosing congenital nystagmus can be challenging, and a comprehensive diagnostic workup is essential to rule out other underlying conditions.

Common Diagnostic Tests:

• Clinical Examination: A thorough eye examination by an ophthalmologist or pediatrician is the first step in diagnosing congenital nystagmus. The healthcare professional will assess the child's overall health, vision, and eye movements.
• Genetic Testing: Genetic testing can help identify underlying genetic conditions that may be contributing to the nystagmus. This test can confirm a diagnosis of congenital nystagmus in some cases (see [1], [2], [3]).
• Electroretinogram (ERG): An ERG measures the electrical activity of the retina and can help diagnose retinal disorders, which are a common cause of infantile nystagmus ([4], [5]).
• Brain Scans: Imaging tests such as CT or MRI scans may be required to rule out any neurological causes for the nystagmus. The MRI shows greater detail and is often used in conjunction with other diagnostic tests (see [6], [7]).

Other Diagnostic Tests:

• Electroencephalogram (EEG): An EEG can help diagnose neurological or muscular causes of nystagmus ([8]).
• Ophthalmological Examination: A comprehensive eye examination by an ophthalmologist is essential to rule out other underlying eye conditions that may be contributing to the nystagmus.

References:

[1] Congenital motor nystagmus is an outdated term for IIN. Infantile nystagmus syndrome (INS) is an umbrella term used to describe different forms of infantile nystagmus (with [14]). [2] Diagnosis/testing. The diagnosis is based on clinical findings (including, when possible, ocular motility recordings). Identification of a hemizygous (in a male proband) ... Congenital motor nystagmus is an outdated term for IIN. Infantile nystagmus syndrome (INS) is an umbrella term used to describe different forms of infantile nystagmus (with [14]). [3] In the groups with an initial clinical diagnosis other than idiopathic, the clinical diagnosis was confirmed or likely based on genetic testing in 3 of 4 (75%) in the ocular albinism group, 2 of 3 (67%) in the PAX6-related phenotypes group, 3 of 3 (100%) in the achromatopsia group, and 16 of 23 (70%) in the Leber congenital amaurosis group. A ... ([15]) [4] Congenital nystagmus with an abrupt onset during the first 3 months of life is usually the presenting clinical sign. The nystagmus often has a pendular waveform that persists but can evolve into a jerk waveform. ... High hyperopia is more prevalent in LCA. The diagnosis is confirmed by ERG testing, which reveals a severely reduced presence or ... ([11]) [5] Nystagmus is rapid, uncontrollable eye movements in one or both eyes. You can be born with nystagmus (congenital) or develop it later in life (acquired). ... Other specialists, such as brain doctors (neurologists) and ear doctors (otorhinolaryngologists), can also diagnose nystagmus and test you for brain or inner ear conditions causing it ... ([12]) [6] Congenital nystagmus is present shortly after birth. Acquired nystagmus begins after 6 months of life. ... and sometimes with blood tests and imaging. Symptoms of Nystagmus. In congenital nystagmus, families typically notice involuntary eye movements in an infant. Congenital nystagmus affects visual development in children and can result in ... ([13]) [7] Diagnosis/testing. The diagnosis is based on clinical findings (including, when possible, ocular motility recordings). Identification of a hemizygous (in a male proband) ... Congenital motor nystagmus is an outdated term for IIN. Infantile nystagmus syndrome (INS) is an umbrella term used to describe different forms of infantile nystagmus (with [14]). [8] In the groups with an initial clinical diagnosis other than idiopathic, the clinical diagnosis was confirmed or likely based on genetic testing in 3 of 4 (75%) in the ocular albinism group, 2 of 3 (67%) in the PAX6-related phenotypes group, 3 of 3 (100%) in the achromatopsia group, and 16 of 23 (70%) in the Leber congenital amaurosis group. A ... ([15]) [9] Congenital nystagmus is present shortly after birth. Acquired nystagmus begins after 6 months of life. ... and sometimes with blood tests and imaging. Symptoms of Nystagmus. In congenital nystagmus, families typically notice involuntary eye movements in an infant. Congenital nystagmus affects visual development in children and can result in ... ([13]) [10] Diagnosis/testing. The diagnosis is based on clinical findings (including, when possible, ocular motility recordings). Identification of a hemizygous (in a male proband) ... Congenital motor nystagmus is an outdated term for IIN. Infantile nystagmus syndrome (INS) is an umbrella term used to describe different forms of infantile nystagmus (with [14]).

Treatment Options for Congenital Nystagmus

According to various studies, several drugs have been explored as potential treatments for congenital nystagmus.

• Gabapentin: This medication has shown some success in reducing the effects of acquired nystagmus in some people [6]. However, its effectiveness in treating congenital nystagmus is still being researched.
• Baclofen: While primarily used to treat muscle spasms and stiffness, baclofen has been found to be effective in treating periodic alternating nystagmus (PAN) subtype [10].
• Memantine: This drug may improve visual acuity and foveation times in congenital nystagmus, although the response can vary from person to person [8].

It's essential to note that these treatments are not universally effective and may have varying degrees of success depending on individual cases. Further research is needed to fully understand their potential benefits and limitations.

References: [6] The drugs gabapentin, baclofen and memantine have also proved to have some success at reducing the effects of acquired nystagmus in some people and they are ... [8] Both memantine and gabapentin may improve visual acuity and foveation times in congenital nystagmus.27 However, in our clinical experience, the response to ... [10] This drug has not been approved for use in children. Baclofen has been effective in treating the periodic alternating nystagmus (PAN) subtype. ...

Common Causes of Congenital Sensory Nystagmus

Congenital sensory nystagmus, a type of congenital nystagmus, can be caused by several factors. Some common causes include:

• Optic nerve hypoplasia or atrophy: Abnormalities in the optic disc can lead to congenital sensory nystagmus [6].
• Ocular albinism: A condition that affects the production of melanin in the eyes, leading to vision problems and potentially causing congenital sensory nystagmus [6].
• Other conditions such as congenital cataracts, coloboma, or microphthalmia can also be associated with congenital sensory nystagmus.

It's essential to note that these causes are not exhaustive, and a comprehensive evaluation is necessary to determine the underlying cause of congenital sensory nystagmus.