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isolated microphthalmia 4

ICD-10 Codes

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Description

Isolated Microphthalmia 4 (MCOP4) Description

Isolated microphthalmia 4, also known as MCOP4, is a disorder of eye formation that can range from small eye size to complete absence of ocular tissues. This condition is characterized by the abnormal development of one or both eyeballs, resulting in their abnormally small size.

  • Variability: The severity of MCOP4 can vary greatly among affected individuals, ranging from mild microphthalmia (small eye size) to complete anophthalmia (complete absence of ocular tissues).
  • Ocular abnormalities: In addition to the primary issue of small or absent eyeballs, individuals with MCOP4 may also experience other ocular abnormalities such as opacities of the cornea or lens.

Causes and Genetics

MCOP4 is caused by a heterozygous mutation in the GDF6 gene (601147) on chromosome 8q22. This genetic mutation affects the normal development of the eyeballs, leading to their abnormal small size or complete absence.

  • Heritability: MCOP4 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.
  • GDF6 gene: The GDF6 gene plays a crucial role in the development and morphogenesis of various tissues, including the eyes. Mutations in this gene can disrupt normal eye formation, leading to MCOP4.

References

  1. [5] - Microphthalmia, isolated 4 is a disorder of eye formation that can range from small eye size to complete absence of ocular tissues.
  2. [7] - Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.
  3. [8] - A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues.
  4. [9] - Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small.

Additional Characteristics

  • Isolated microphthalmia 4, also known as MCOP4, is a disorder of eye formation that can range from small eye size to complete absence of ocular tissues.
  • The severity of MCOP4 can vary greatly among affected individuals, ranging from mild microphthalmia (small eye size) to complete anophthalmia (complete absence of ocular tissues).
  • MCOP4 is caused by a heterozygous mutation in the GDF6 gene (601147) on chromosome 8q22.
  • MCOP4 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.
  • Microphthalmia, isolated 4 is a disorder of eye formation that can range from small eye size to complete absence of ocular tissues.
  • Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.
  • A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues.
  • Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small.

Signs and Symptoms

Signs and Symptoms of Isolated Microphthalmia

Isolated microphthalmia, a rare developmental disorder, presents with distinct signs and symptoms. The main symptom is having one or both eyes that are smaller than normal or completely absent [8]. Some secondary symptoms associated with this condition include:

  • Visual impairment: Individuals with isolated microphthalmia often experience visual impairment or blindness due to the abnormal size of their eyeballs.
  • Poor vision: In some cases, people may have poor vision or be blind in one eye, depending on the severity of the condition.

These symptoms can significantly impact an individual's quality of life and require proper medical attention.

Additional Symptoms

  • Visual impairment
  • Poor vision

Diagnostic Tests

Diagnostic Tests for Isolated Microphthalmia

Isolated microphthalmia can be diagnosed through a combination of clinical inspection, palpation, and imaging studies.

  • Clinical Inspection: The diagnosis is typically made by inspecting the eye through the lids, which may reveal a smaller-than-normal eye size [5]. Palpation of the eye may also help in assessing its size.
  • B-scan Ultrasound: A B-scan ultrasound can be used to measure the total axial length (AL) of the eye. If the AL is at least 2 standard deviations below normal, a diagnosis of microphthalmia can be made [6].
  • Ultrasound Studies: Ultrasound studies can be used to demonstrate the size of the orbits and measure the corneal diameter, which can aid in diagnosing microphthalmia [8].

It's worth noting that broad panel testing may also be considered for isolated microphthalmia, especially if there is a suspicion of underlying genetic conditions. This involves evaluating several potential genes based on a single clinical indication [9].

Additional Diagnostic Tests

  • Ultrasound Studies
  • Clinical Inspection
  • B-scan Ultrasound

Treatment

Treatment Options for Isolated Microphthalmia

Isolated microphthalmia, also known as structural birth defects with no treatment available, can be challenging to manage. However, various treatment options are available to address the symptoms and improve the quality of life for individuals affected by this condition.

  • Medical Therapy: While there is no cure for isolated microphthalmia, medical therapy may be used to manage related conditions such as refractive errors or other ocular abnormalities.
  • Surgery: In some cases, surgery may be necessary to address complications or improve the appearance of the affected eye. However, this should only be considered under the guidance of an experienced pediatric oculoplastic surgeon.

Important Considerations

It's essential to note that treatment for isolated microphthalmia is often focused on managing symptoms and improving cosmesis (the appearance of the affected area). The primary goal is to maximize existing vision and improve the overall quality of life for individuals with this condition.

Recommended Medications

  • Surgery
  • Medical Therapy

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnoses of Isolated Microphthalmia

Isolated microphthalmia, a condition where one eye is abnormally small, has several differential diagnoses that should be considered for accurate diagnosis and management. According to medical literature [4], the following conditions are among the differential diagnoses:

  • Cryptophthalmos: A rare congenital anomaly where the eyelids and orbit are fused together.
  • Cyclopia: A severe form of holoprosencephaly, a condition where the brain and eyes develop abnormally, resulting in a single eye or an eye that is severely malformed.
  • Synophthalmia: A rare congenital anomaly where there is a partial or complete fusion of the eyelids and orbit.

These conditions are often considered as differential diagnoses for isolated microphthalmia, and accurate diagnosis requires a thorough evaluation by a multidisciplinary team of healthcare professionals [4].

References:

[4] Verma AS. (2007). Congenital Anomalies of the Eye. In: Yanoff M, Duker JS, editors. Ophthalmology. 3rd ed. St Louis, MO: Mosby; pp. 123-125.

Additional Differential Diagnoses

  • Cyclopia
  • Cryptophthalmos
  • Synophthalmia

Additional Information

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