From HPO
Palpebral fissure narrowing on adduction- MedGen UID:
- 375896
- •Concept ID:
- C1846465
- •
- Finding
Duane retraction syndrome- MedGen UID:
- 4413
- •Concept ID:
- C0013261
- •
- Disease or Syndrome
Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.
Esotropia- MedGen UID:
- 4550
- •Concept ID:
- C0014877
- •
- Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
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.
Impaired convergence- MedGen UID:
- 78768
- •Concept ID:
- C0271379
- •
- Finding
Reduced ability to turn the eyes inward in order to focus on a nearby object.
Impaired ocular abduction- MedGen UID:
- 375894
- •Concept ID:
- C1846462
- •
- Finding
An impaired ability of the eye to move in the outward direction (towards the side of the head).
Impaired ocular adduction- MedGen UID:
- 337588
- •Concept ID:
- C1846463
- •
- Finding
Reduced ability to move the eye in the direction of the nose.
- Abnormality of head or neck
- Abnormality of the eye