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Ophthalmoplegia totalis with ptosis and miosis

MedGen UID:
342471
•Concept ID:
C1850314
•
Disease or Syndrome
Synonym: Ophthalmoplegia Totalis with Ptosis and Miosis
 
Monarch Initiative: MONDO:0009782
OMIM®: 258400

Definition

Total ophthalmoplegia involves total paralysis of all extra- and intraocular muscles. If one or more of the external muscles, including the levator palpebrae, is not affected, the condition is known as incomplete or partial ophthalmoplegia. If only 1 nerve is affected, the palsy is named after that nerve (see, e.g., abducens palsy, 100200) (Waardenburg, 1963). [from OMIM]

Clinical features

From HPO
Amblyopia
MedGen UID:
8009
•Concept ID:
C0002418
•
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
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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).
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Miosis
MedGen UID:
6409
•Concept ID:
C0026205
•
Disease or Syndrome
Abnormal (non-physiological) constriction of the pupil.
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Ophthalmoplegia
MedGen UID:
45205
•Concept ID:
C0029089
•
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.
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Strabismus
MedGen UID:
21337
•Concept ID:
C0038379
•
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
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    • OMIM
      Related records in OMIM

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