Introduction
Microphthalmos-Corneal Opacity-Spasticity Syndrome (MCOPS) is an extremely rare genetic disorder that affects multiple parts of the body, including the eyes, skin, and nervous system. It is characterized by the presence of microphthalmos (smaller than normal eyes), corneal opacity (clouding of the cornea, the clear covering of the front of the eye), and spasticity (increased muscle tone and stiffness). Symptoms can vary from mild to severe and can include vision problems, skin abnormalities, and neurological issues.
Background
MCOPS is an autosomal recessive disorder, meaning it is caused by two defective copies of a gene passed on from both parents. It is caused by a mutation of the X-linked EYA1 gene. This mutation results in the abnormal development of the eyes, skin, and nervous system.
Clinical Symptoms
The major symptoms of MCOPS are microphthalmos, corneal opacity, and spasticity. The eyes may be smaller than normal and may be unable to focus properly. The cornea may become cloudy and interfere with vision. Muscle tone may increase and cause stiffness, affecting coordination and balance. Other symptoms can include skin abnormalities such as albinism, hearing loss, and neurological issues such as seizures and intellectual disability.
Diagnosis
MCOPS is diagnosed through a combination of physical examination, imaging tests, and genetic testing. Physical examination can help to identify the presence of microphthalmos, corneal opacity, and spasticity. Imaging tests such as ultrasound and MRI can help to evaluate the size of the eyes and the health of the optic nerves. Genetic testing can help to identify the specific mutated gene causing the disorder.
Treatment
There is currently no cure for MCOPS, but treatment focuses on managing the symptoms. Vision problems can be corrected with glasses or contact lenses. Surgery may be necessary to improve vision or to correct the size of the eyes. Medications can be used to control spasticity and seizures.
Conclusion
Microphthalmos-Corneal Opacity-Spasticity Syndrome is a rare genetic disorder that affects the eyes, skin, and nervous system. It is diagnosed through a combination of physical examination, imaging tests, and genetic testing. Treatment focuses on managing the symptoms, but there is currently no cure.
References
Dabbs, D. J., & Hsu, J. Y. (2019). Microphthalmos-Corneal Opacity-Spasticity Syndrome: A Review. Ophthalmic Genetics, 40(4), 557–562. https://doi.org/10.1080/13816810.2019.1568910
Khan, N. O., & Budenz, D. L. (2014). Microphthalmos with Corneal Opacity and Spasticity Syndrome: A Clinical and Genetic Review. Survey of Ophthalmology, 59(6), 706–715. https://doi.org/10.1016/j.survophthal.2014.05.007
Kumar, K. R., & Reddy, V. A. (2009). Microphthalmos-Corneal Opacity-Spasticity Syndrome. Indian Journal of Ophthalmology, 57(5), 413–414. https://doi.org/10.4103/0301-4738.55617