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Ophthalmoplegia, external, and myopia(OPEM)

MedGen UID:
326916
Concept ID:
C1839577
Disease or Syndrome
Synonyms: MYOPIA-OPHTHALMOPLEGIA SYNDROME; OPEM
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
 
OMIM®: 311000

Clinical features

Absent patellar reflexes
MedGen UID:
643630
Concept ID:
C0558844
Finding
Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
Absent Achilles reflex
MedGen UID:
108240
Concept ID:
C0558845
Finding
Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Spina bifida
MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect.Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the nerves do not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.
Absent patellar reflexes
MedGen UID:
643630
Concept ID:
C0558844
Finding
Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
Absent Achilles reflex
MedGen UID:
108240
Concept ID:
C0558845
Finding
Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.Nearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.For normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.Nearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.Eye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Ophthalmoplegia
MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Abnormal pupillary function
MedGen UID:
214629
Concept ID:
C0917967
Finding
A functional abnormality of the pupil.
Chorioretinal degeneration
MedGen UID:
893032
Concept ID:
C4072869
Finding

Recent clinical studies

Etiology

Nemet AY, Segal O, Mimouni M, Vinker S
Graefes Arch Clin Exp Ophthalmol 2014 Sep;252(9):1509-14. Epub 2014 Aug 13 doi: 10.1007/s00417-014-2759-3. PMID: 25115411
Vaughan ER, Paschall WJ
Ann Ophthalmol 1985 May;17(5):275-8, 280-3. PMID: 4004008

Diagnosis

Nemet AY, Segal O, Mimouni M, Vinker S
Graefes Arch Clin Exp Ophthalmol 2014 Sep;252(9):1509-14. Epub 2014 Aug 13 doi: 10.1007/s00417-014-2759-3. PMID: 25115411
Gräf M, Lorenz B
Rev Neurol (Paris) 2012 Oct;168(10):720-8. Epub 2012 Sep 15 doi: 10.1016/j.neurol.2012.08.001. PMID: 22986079
Castillo IG, Savino PJ, Danesh-Meyer HV, Reinecke RD
Am J Ophthalmol 2002 Sep;134(3):439-42. PMID: 12208259
Lević ZM, Stefanović BS, Nikolić MZ, Pisteljić DT
Neurology 1975 Jan;25(1):68-71. PMID: 1167409
Mace JW, Sponaugle HD, Mitsunaga RY, Schanberger JE
Am J Dis Child 1971 Sep;122(3):261-3. PMID: 5568594

Therapy

Nemet AY, Segal O, Mimouni M, Vinker S
Graefes Arch Clin Exp Ophthalmol 2014 Sep;252(9):1509-14. Epub 2014 Aug 13 doi: 10.1007/s00417-014-2759-3. PMID: 25115411
Scott AB, Miller JM, Shieh KR
Trans Am Ophthalmol Soc 2009 Dec;107:104-9. PMID: 20126486Free PMC Article
Kowal L
Aust N Z J Ophthalmol 1988 Aug;16(3):264-6. PMID: 3179055

Prognosis

Nemet AY, Segal O, Mimouni M, Vinker S
Graefes Arch Clin Exp Ophthalmol 2014 Sep;252(9):1509-14. Epub 2014 Aug 13 doi: 10.1007/s00417-014-2759-3. PMID: 25115411
Vaughan ER, Paschall WJ
Ann Ophthalmol 1985 May;17(5):275-8, 280-3. PMID: 4004008
Knapp P
Ophthalmology 1979 Dec;86(12):2081-4. PMID: 583615

Clinical prediction guides

Nemet AY, Segal O, Mimouni M, Vinker S
Graefes Arch Clin Exp Ophthalmol 2014 Sep;252(9):1509-14. Epub 2014 Aug 13 doi: 10.1007/s00417-014-2759-3. PMID: 25115411
Kohno T, Oohira A, Hori S
Jpn J Ophthalmol 2004 Nov-Dec;48(6):584-6. doi: 10.1007/s10384-004-0113-8. PMID: 15592785

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