isolated microphthalmia 7

Isolated Microphthalmia 7 (MCOP7) Description

Isolated microphthalmia 7, also known as MCOP7, is a rare genetic disorder that affects the development of one or both eyes. It is characterized by an abnormally small eye size, which can range from a small single eye to complete bilateral absence of ocular tissues.

Key Features:

• Small Eye Size: One or both eyeballs are significantly smaller than normal.
• Ocular Abnormalities: Corneal and lens opacities, retinal and choroidal scarring, and other abnormalities may be present.
• Genetic Cause: MCOP7 is caused by a heterozygous mutation in the GDF3 gene on chromosome 12p13.

Inheritance Pattern: Isolated microphthalmia 7 can sometimes be inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. However, this is not always the case, and other inheritance patterns may also be possible.

References:

• Egloff C, Tassin M, Bault JP, Barjol A, Collin A, Simon I, Sibiude J, Mandelbrot L, Picone O (2020) Prenatal description of retinal coloboma. J Gynecol Obstet Hum Reprod 49(7):101746.
• Ye et al. (2010) reported two cases of isolated microphthalmia type 7.

Sources:

• Online Mendelian Inheritance in Man (OMIM)
• MalaCards integrated disease information for Microphthalmia, Isolated 7
• Integrated disease information for Isolated Microphthalmia including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources.

Note: The above description is based on the provided context and search results.

Developmental milestones (such as responsive smile) are often delayed and most patients have moderate to severe intellectual deficiencies. Facial features can also be affected.

This condition is characterized by a delay in developmental milestones, such as the ability to smile responsively, which is typically seen in infants. Additionally, individuals with isolated microphthalmia may experience moderate to severe intellectual disabilities. The facial features of these individuals can also be affected, although specific details are not provided in this context.

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Diagnostic Tests for Isolated Microphthalmia

Isolated microphthalmia can be diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies.

• Clinical Evaluation: A diagnosis of microphthalmia is typically made clinically by inspection and palpation of the eye through the lids. The total axial length (AL) of the eye is measured to determine if it is at least 2 standard deviations below normal, which usually means <19mm at 1 year of age or <21mm in an adult [2].
• Genetic Testing: Genetic testing can be used to obtain a molecular diagnosis and direct future management. The genes associated with microphthalmia include RAX (18q21.32) [4]. Clinical genetic tests offered by Intergen and PreventionGenetics, part of Exact Sciences, also analyze genes associated with microphthalmia [3][5].
• Imaging Studies: Ultrasound studies can be used to demonstrate the size of the orbits, and coronal and transverse views of the orbit are the most useful for measuring the size of the eye [8]. Fetal ultrasound and fetal MRI may also be used to diagnose microphthalmia before birth [11][12].
• Electrophysiological Tests: Electrophysiological tests are critical for assessing the severity of visual impairment and help to determine at which level the abnormality is. These tests can also help in determining the underlying diagnosis [13].

It's worth noting that molecular diagnosis can be made through genetic testing, such as array comparative genomic hybridization (aCGH) or whole exome/genome sequencing [11]. Prenatal diagnosis of microphthalmia may be made through 2D or 3D ultrasonography during the pregnancy.

References: [1] Moosajee M. Isolated microphthalmia-anophthalmia-coloboma. [2] Clinical Diagnosis and Evaluation [3] Clinical Genetic Test offered by Intergen for conditions (1): Isolated microphthalmia 3; Testing genes (1): RAX (18q21.32) [4] Clinical Genetic Test offered by Intergen for conditions (1): Isolated microphthalmia 3; Testing genes (1): RAX (18q21.32) [5] Clinical Genetic Test offered by PreventionGenetics, part of Exact Sciences [8] Imaging Studies: Ultrasound studies can be used to demonstrate the size of the orbits. [11] Molecular diagnosis can be made through genetic testing, such as array comparative genomic hybridization (aCGH) or whole exome/genome sequencing. [12] Prenatal diagnosis of microphthalmia may be made through 2D or 3D ultrasonography during the pregnancy.

Based on the provided context, it appears that there are limited treatment options available for isolated microphthalmia, and most information focuses on surgical and prosthetic treatments.

However, according to search result [13], integrated disease information for Isolated Microphthalmia mentions associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources. This suggests that there may be some research or studies exploring potential drug treatments for isolated microphthalmia.

Unfortunately, the provided context does not provide specific information on drug treatment options for isolated microphthalmia. However, it mentions that both animal and cellular models can be used to develop and test new drugs, which could potentially provide treatment options for patients living with microphthalmia (search result [15]).

It's worth noting that the management of manifestations in isolated microphthalmia often involves a multidisciplinary team, including an experienced pediatric ophthalmologist, ophthalmo-plastic surgeon, and early educational intervention through community vision services and/or school district (search result [14]). However, this does not specifically mention drug treatment options.

In summary, while there may be some research or studies exploring potential drug treatments for isolated microphthalmia, the provided context does not provide specific information on available drug treatment options.

Isolated Microphthalmia Differential Diagnoses

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

• Cryptophthalmos: A rare congenital anomaly where the eyelids are fused together, often associated with other ocular and systemic abnormalities [1].
• Cyclopia: A severe form of microphthalmia where the eyes are partially or completely fused together, often accompanied by other craniofacial anomalies [2].
• Synophthalmia: A condition where the eyes are partially or completely fused together, but with a more complex and variable anatomy compared to cyclopia [3].

These differential diagnoses should be considered in patients presenting with isolated microphthalmia, as they may have overlapping clinical features and require similar management approaches.

References: [1] Context result 8 [2] Context result 6 [3] Context result 7