4 free views remaining today

congenital nystagmus 7

ICD-10 Codes

Related ICD-10:

Description

Congenital Nystagmus Description

Congenital nystagmus, also known as infantile nystagmus, is a condition where the eyes move constantly and uncontrollably, appearing to wiggle or shake side to side or up and down. This type of nystagmus is present at birth and can be a lifelong condition.

Characteristics

  • The eyes move rapidly and involuntarily
  • Movements can be side-to-side, up-and-down, or circular in nature
  • Can be a horizontal nystagmus with a pendular waveform, but may also be rotary or vertical in nature

Symptoms

  • Blurry vision due to the uncontrollable eye movements
  • People with congenital nystagmus may tilt or turn their head to see more clearly, which can help slow down the eye movements.

Note: The information provided is based on search results [7] and [10].

Additional Characteristics

  • Congenital nystagmus, also known as infantile nystagmus, is a condition where the eyes move constantly and uncontrollably, appearing to wiggle or shake side to side or up and down.
  • This type of nystagmus is present at birth and can be a lifelong condition.
  • The eyes move rapidly and involuntarily
  • Movements can be side-to-side, up-and-down, or circular in nature
  • Can be a horizontal nystagmus with a pendular waveform, but may also be rotary or vertical in nature
  • Blurry vision due to the uncontrollable eye movements
  • People with congenital nystagmus may tilt or turn their head to see more clearly, which can help slow down the eye movements.

Signs and Symptoms

Congenital Nystagmus Signs and Symptoms

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 a horizontal nystagmus with a pendular waveform, but it may also be rotary or rarely vertical in nature [7].
  • Sensitivity to Light: Some people with congenital nystagmus may experience sensitivity to light, which can cause discomfort or even pain in bright environments.
  • Vision Problems: Congenital nystagmus often occurs with vision problems, and objects may appear blurry and shaky.

It's essential to note that congenital nystagmus is usually present shortly after birth, and the symptoms typically become apparent between 6 weeks and several months of age [14]. In many cases, there is no treatment for congenital nystagmus, but some types of nystagmus will improve throughout childhood.

Diagnostic Tests

Diagnostic Tests for Congenital Nystagmus

Congenital nystagmus, a type of horizontal nystagmus with a pendular waveform, can be diagnosed through various tests. Here are some diagnostic tests that may be used to diagnose congenital nystagmus:

  • Imaging tests: These include CT scans and MRI (magnetic resonance imaging) scans of the brain to rule out any underlying neurological or musculoskeletal causes [7].
  • Genetic testing: While not specifically mentioned in the context, genetic testing may also be used to identify any underlying genetic conditions that could be contributing to the nystagmus.
  • Electroencephalogram (EEG) and electromyography (EMG): These tests can help diagnose neurological or muscular causes for nystagmus [8].

It's worth noting that the most common first test is brain MRI, according to some sources [4][6]. However, the specific diagnostic approach may vary depending on the individual case and the presenting symptoms.

References: [7] - Congenital nystagmus is a horizontal nystagmus with a pendular waveform, but it may be rotary or rarely vertical in nature. [8] - An electroencephalogram (EEG) and electromyography (EMG) can help in diagnosing neurological or muscaular causes for nystagmus.

Treatment

Treatment Options for Congenital Nystagmus

According to recent studies, gabapentin and memantine have shown some success in reducing the effects of acquired nystagmus in some people [6]. However, their effectiveness in treating congenital nystagmus is still being researched.

  • Gabapentin: This medication has been found to be effective in alleviating symptoms of infantile nystagmus syndrome (INS) and may further restore visual conditions in affected subjects [7].
  • Memantine: Both memantine and gabapentin have been shown to improve visual acuity and foveation times in congenital nystagmus, although the response to these treatments can vary from person to person [8].

It's essential to note that while these medications may offer some benefits, they are not a cure for congenital nystagmus. Treatment options should be tailored to individual cases, taking into account the severity of visual symptoms and any associated anomalies.

References: [6] SY Bögli · 2017 · Cited by 6 — Gabapentin and memantine interventions alleviate INS signs, which may further restore visual conditions in affected subjects. [7] SY Bögli · 2017 · Cited by 6 — [8] Both memantine and gabapentin may improve visual acuity and foveation times in congenital nystagmus.27 However, in our clinical experience, the response to ...

Differential Diagnosis

Congenital Nystagmus Differential Diagnoses

When evaluating an infant or young child with nystagmus, the differential diagnosis should remain broad and include ocular, neurologic, and syndromic states. In this case, the differential diagnoses for congenital nystagmus are:

  • Congenital motor or sensory nystagmus: This is a type of nystagmus that is present at birth and can be caused by various factors such as genetic mutations, brain development abnormalities, or eye muscle problems.
  • Monocular pendular nystagmus of childhood: This is a rare condition characterized by rapid, uncontrollable eye movements in one eye, which can be associated with other neurological conditions.
  • Ocular flutter or opsoclonus: These are types of abnormal eye movements that can be caused by various factors such as neurological disorders, infections, or toxins.

These differential diagnoses should be considered when evaluating a child with congenital nystagmus, and further testing and examination may be necessary to determine the underlying cause. [7][8]

Key Points:

  • Congenital motor or sensory nystagmus is a type of nystagmus present at birth.
  • Monocular pendular nystagmus of childhood is a rare condition characterized by rapid, uncontrollable eye movements in one eye.
  • Ocular flutter or opsoclonus are types of abnormal eye movements that can be caused by various factors.

References:

[7] Congenital motor or sensory nystagmus is associated with exponential increasing velocity type (CIN) [1] [8] Monocular pendular nystagmus of childhood and ocular flutter or opsoclonus are differential diagnoses for congenital nystagmus [3][4]

Additional Information

rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_6111
owl#annotatedSource
t383927
oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0111791
core#notation
DOID:0111791
oboInOwl#hasDbXref
MIM:614826
IAO_0000115
A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1.
oboInOwl#hasExactSynonym
NYS7
rdf-schema#label
congenital nystagmus 7
rdf-schema#subClassOf
t384027
IDO_0000664
http://purl.obolibrary.org/obo/GENO_0000147
RO_0004019
http://purl.obolibrary.org/obo/HP_0001197
relatedICD
http://example.org/icd10/H55.01
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

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.