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Ophthalmoplegia, external, and myopia(OPEM)

MedGen UID:
326916
Concept ID:
C1839577
Disease or Syndrome
Synonyms: MYOPIA-OPHTHALMOPLEGIA SYNDROME; OPEM
 
Monarch Initiative: MONDO:0010697
OMIM®: 311000

Clinical features

From HPO
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
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
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.\n\nNearsightedness 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.\n\nFor 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.\n\nNearsightedness 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.\n\nEye 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.
Chorioretinal degeneration
MedGen UID:
99273
Concept ID:
C0521683
Pathologic Function
Abnormal pupillary function
MedGen UID:
214629
Concept ID:
C0917967
Finding
A functional abnormality of the pupil.

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

Sim B, Ng JWZ, Sim DY, Goh J, Kam S, Teo JX, Lim WW, Lieviant J, Lim WK, Lim SA, Tang PH, Ling S, Ng SWL, Roca X, Jamuar SS
J AAPOS 2023 Dec;27(6):359-363. Epub 2023 Nov 4 doi: 10.1016/j.jaapos.2023.08.017. PMID: 37931836
Abu Diab A, AlTalbishi A, Rosin B, Kanaan M, Kamal L, Swaroop A, Chowers I, Banin E, Sharon D, Khateb S
Acta Ophthalmol 2019 Sep;97(6):e877-e886. Epub 2019 Mar 29 doi: 10.1111/aos.14095. PMID: 30925032
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
MANSON N, STERN G
Lancet 1965 May 1;1(7392):935-7. doi: 10.1016/s0140-6736(65)91255-9. PMID: 14275711

Therapy

Lee SM, Wu J, Hwang DD
Korean J Ophthalmol 2023 Jun;37(3):255-265. Epub 2023 Apr 17 doi: 10.3341/kjo.2022.0111. PMID: 37068839Free PMC Article
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. doi: 10.1111/j.1442-9071.1988.tb01222.x. PMID: 3179055

Prognosis

Lee SM, Wu J, Hwang DD
Korean J Ophthalmol 2023 Jun;37(3):255-265. Epub 2023 Apr 17 doi: 10.3341/kjo.2022.0111. PMID: 37068839Free PMC Article
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. doi: 10.1016/s0161-6420(79)35286-1. 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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