microphthalmia

Microphthalmia: A Rare Congenital Eye Abnormality

Microphthalmia, also known as microphthalmos, is a rare congenital eye abnormality where one or both eyeballs are abnormally small and have anatomic malformations [1][3][13]. This condition can occur with other eye problems, such as microcornea, and may affect vision and appearance [1].

Characteristics of Microphthalmia

Microphthalmia is characterized by the presence of an abnormally small eye globe, which may be part of a syndrome that affects other organs [4][12]. In some individuals, the eyeball may appear to be completely missing; however, even in these cases, some remaining eye tissue is generally present [5].

Types of Microphthalmia

Microphthalmia can be isolated or associated with other ocular or systemic findings as part of a syndrome [11]. It can also be genetic, environmental, or both, and may be associated with other conditions such as coloboma, cataract, or fetal alcohol syndrome [4].

Symptoms and Vision Problems

People with microphthalmia are born with underdeveloped eyeballs, which can make the eyes appear abnormally small and uneven [14]. This condition can cause vision problems, blindness, and small eye sockets [3].

References:

[1] Microphthalmia is a congenital disorder of the eye in which one or both eyes are abnormally small and have anatomic malformations. (Search Result 4) [2] In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. (Search Result 5) [3] Anophthalmia and microphthalmia are rare eye conditions that people are born with. They can cause vision problems, blindness, and small eye sockets. (Search Result 3) [4] Microphthalmia is a congenital disorder of the eye in which one or both eyes are abnormally small and have anatomic malformations. It can be genetic, environmental, or both, and may be associated with other conditions such as coloboma, cataract, or fetal alcohol syndrome. (Search Result 4) [11] Microphthalmos is a rare developmental disorder of the eye in which one or both eyes are abnormally small. It may be isolated or associated with other ocular or systemic findings as part of a syndrome. Learn about its epidemiology, etiology, clinical evaluation and treatment options. (Search Result 11) [13] What is microphthalmia. Microphthalmia also called microphthalmos, is a congenital (present at birth) eye abnormality where one or both eyeballs are abnormally small and have anatomic malformations 1.. Microphthalmia is also defined as eyeball with a total axial length that is at least two standard deviations below the mean for age 2. (Search Result 13) [14] People with microphthalmia are born with underdeveloped eyeballs. This can make the eyes appear abnormally small and uneven. When a person has anophthalmia, it means their eyeball tissue did not develop at all, ... Click on various parts of our human eye illustration for descriptions of the eye anatomy; read an article about how vision works. (Search Result 14)

Signs and Symptoms of Microphthalmia

Microphthalmia, also known as small eye syndrome, is a rare congenital condition where one or both eyes are abnormally small. The main symptom of microphthalmia is having one or both eyes that are smaller than normal or completely absent.

• Small Eye Size: One or both eyes are visibly much smaller than usual.
• Poor Vision or Blindness: People with microphthalmia may experience poor vision or complete blindness in one or both eyes.
• Other Eye Conditions: Microphthalmia can occur along with other eye conditions, such as coloboma (when normal tissue in or around the eye is missing).
• Facial Features: Facial features can include flattened midface, sparse eyelashes, short palpebral fissures, high palate, and cleft lip.
• Other Medical Issues: Microphthalmia can be associated with abnormalities in the brain, heart, and genitourinary system.

Diagnosis

Microphthalmia can be diagnosed during pregnancy through an ultrasound or a CT scan. After birth, a healthcare provider can identify microphthalmia by examining the baby.

References:

• [6] Microphthalmia is an eye condition that happens before birth. In this condition, one or both eyeballs are abnormally small.
• [12] People with microphthalmia will have one or both eyes that are visibly much smaller than usual. People with these conditions will either be blind or have some degree of permanent sight loss in one or both eyes.
• [13] Isolated microphthalmia is sometimes inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
• [14] Isolated microphthalmia is sometimes inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
• [11] Symptoms include poor vision or even complete vision loss. These eye conditions can happen along with other eye conditions and medical issues.

Diagnostic Tests for Microphthalmia

Microphthalmia, a rare congenital eye abnormality, can be diagnosed using various tests and examinations. Here are some of the diagnostic tests used to diagnose microphthalmia:

• Ultrasound: This non-invasive test uses high-intensity sound waves to create images of the eye structures. It is often used as a first-line diagnostic tool for microphthalmia (1).
• Genetic testing: Molecular diagnosis can be made through genetic testing, such as array comparative genomic hybridization (aCGH) or whole exome/genome sequencing (6). This test helps identify genetic mutations associated with microphthalmia.
• Imaging tests: Other imaging tests like CT scans and B-scan ultrasound can also be used to diagnose microphthalmia. A diagnosis of microphthalmia is given if the total AL is at least 2 standard deviations below normal, which usually means a measurement of less than 15mm (9).
• Clinical examination: Microphthalmia is typically diagnosed clinically by inspection and palpation of the eye through the lids (4). This involves a thorough physical examination to assess the size and shape of the eye.
• Gene panels: A 61 gene panel that includes assessment of non-coding variants can be ideal for patients with a clinical suspicion or diagnosis of microphthalmia, anophthalmia, or coloboma (2).

These diagnostic tests help identify microphthalmia and provide valuable information for further management and treatment.

References:

1. [1] - Ultrasound is used to diagnose microphthalmia before birth.
2. [2] - A 61 gene panel can be ideal for patients with a clinical suspicion or diagnosis of microphthalmia, anophthalmia, or coloboma.
3. [4] - Microphthalmia is typically diagnosed clinically by inspection and palpation of the eye through the lids.
4. [6] - Molecular diagnosis can be made through genetic testing, such as array comparative genomic hybridization (aCGH) or whole exome/genome sequencing.
5. [9] - A diagnosis of microphthalmia is given if the total AL is at least 2 standard deviations below normal, which usually means a measurement of less than 15mm.

Treatment Options for Microphthalmia

Microphthalmia, a congenital eye abnormality where one or both eyeballs are abnormally small and have anatomic malformations, can be challenging to treat. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve the quality of life for affected individuals.

Medical Therapy

According to [1], medical therapy is often the first line of treatment for microphthalmia. This

Differential Diagnoses of Microphthalmia

Microphthalmia, a congenital disorder where one or both eyes are small and structurally disorganized, can be associated with various other conditions. The differential diagnoses for microphthalmia include:

• Anophthalmia: A condition where one or both eyes are completely absent.
• Cryptophthalmos: A rare condition where the eye is partially or completely covered by a layer of skin.
• Cyclopia: A congenital disorder where the two eyes are fused together, forming a single eye-like structure.
• Synophthalmia: A condition where the two eyes are partially fused together.
• Congenital cystic eye: A rare condition where a cyst forms in place of one or both eyes.
• Microphthalmia with Malformations of the Hands and Feet: A rare condition where microphthalmia is associated with malformations of the hands and feet.
• Microphthalmia with polydactyly: A rare condition where microphthalmia is associated with extra fingers or toes.

These conditions can be diagnosed through various methods, including high-resolution cranial imaging, post-mortem examination, and genetic studies. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children [1][3].

References:

[1] - Search result 3 [2] - Search result 13 [3] - Search result 14