isolated microphthalmia 5

Isolated Microphthalmia 5 (MCOP5)

Isolated Microphthalmia 5, also known as MCOP5, is a rare genetic disorder affecting the eyes. It is characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen [4].

Key Features:

• Posterior microphthalmia: One or both eyeballs are abnormally small due to a developmental defect.
• Retinitis pigmentosa: A degenerative eye disorder that affects the retina's ability to respond to light.
• Foveoschisis: A thinning and splitting of the fovea, which is the central part of the retina responsible for sharp vision.
• Optic disc drusen: Abnormal growths on the optic disc, which can affect vision.

Causes:

MCOP5 is caused by a mutation in the MFRP gene [2]. This genetic defect leads to the development of microphthalmia and other associated eye abnormalities.

References:

• [1] Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder ...
• [2] Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.
• [4] Microphthalmia, isolated 5 is a rare genetic disorder affecting the eyes. It is characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis, ...

Isolated Microphthalmia Signs and Symptoms

Isolated microphthalmia, also known as microphthalmos, is a rare developmental disorder of the eye in which one or both eyes are abnormally small. The main symptom of this condition is having one or both eyes that are smaller than normal or completely absent.

• Visual Impairment: One of the primary symptoms of isolated microphthalmia is visual impairment or blindness.
• Poor Vision: Some individuals with this condition may experience poor vision due to the abnormal size and shape of their eyeballs.
• Other Organ Dysfunction: In some cases, isolated microphthalmia can be associated with dysfunction or underdevelopment of other organs.

It's essential to note that developmental milestones, such as responsive smile, are often delayed in individuals with isolated microphthalmia. Additionally, most patients have moderate to severe intellectual deficiencies.

References:

• [5] Microphthalmos also called microphthalmia, is a rare developmental disorder of the eye in which one or both eyes are abnormally small.
• [3] Nov 1, 2011 — In this condition, one or both eyeballs are abnormally small.
• [4] Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small.
• [7] Microphthalmia (microphthalmos) is a disorder characterized by decreased size of the eyeball and orbit and is generally associated with other abnormalities/
• [8] Nov 30, 2020 — Symptoms · 1) Visual impairment · 2) Dysfunction or under development of other organs.
• [9] The main symptom is having one or both eyes that are smaller than normal or completely absent. Some secondary symptoms of this include poor vision or blindness.

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 clinically by inspection and palpation of the eye through the lids [4][7]. This involves examining the size and shape of the eye, as well as any visible abnormalities.
• B-Scan Ultrasound: A B-scan ultrasound can be used to measure the total axial length (AL) of the eye. A diagnosis of microphthalmia is given if the total AL is at least 2 standard deviations below normal [6].
• Ultrasound Studies: Ultrasound studies can be used to demonstrate the size of the orbits and measure the size of the eye. Coronal and transverse views of the orbit are the most useful for measuring the size of the eye [8].

It's worth noting that broad panel testing, which includes assessment of non-coding variants, may also be considered in cases where there is a clinical suspicion or diagnosis of microphthalmia [9]. However, this would typically involve genetic testing and is not a primary diagnostic tool.

References: [4] - Context 4 [6] - Context 6 [7] - Context 7 [8] - Context 8 [9] - Context 9

Treatment Options for Isolated Microphthalmia

According to recent research [5], treatment options for isolated microphthalmia may include surgical management for complications and optimization of visual function, supplemented by visual aids and rehabilitation.

• Surgical Management: Surgical interventions can help manage complications associated with microphthalmia, such as orbital growth issues or vision problems.
• Optimization of Visual Function: Treatment aims to maximize existing vision in affected individuals. This may involve various therapies and interventions tailored to the individual's specific needs.
• Visual Aids and Rehabilitation: In addition to surgical management, visual aids like glasses, contact lenses, or low vision devices can be prescribed to help improve vision. Rehabilitation services, such as occupational therapy, may also be recommended to enhance daily functioning.

It is essential to consult with an oculoplastic surgeon and ocularist for personalized guidance on managing isolated microphthalmia [8].

Isolated Microphthalmia Differential Diagnoses

Isolated microphthalmia, a condition where one eye is abnormally small, has several differential diagnoses that should be considered for accurate diagnosis and treatment.

• Cryptophthalmos: A rare congenital anomaly where the eyelids are fused together, often associated with other systemic abnormalities.
• Cyclopia: A severe form of microphthalmia where the eyes are partially or completely fused together, often accompanied by other craniofacial anomalies.
• Synophthalmia: A condition where the eyes are partially or completely fused together, but not as severely as in cyclopia.

These differential diagnoses should be considered when evaluating isolated microphthalmia to ensure accurate diagnosis and treatment planning. [5][8]

References:

[5] - Isolated microphthalmia usually occurs sporadically, but it may be associated with other systemic abnormalities such as cryptophthalmos, cyclopia, or synophthalmia.

[8] - Differential diagnoses for isolated microphthalmia include cryptophthalmos, cyclopia, and synophthalmia.