From HPO
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Persistent hyperplastic primary vitreous- MedGen UID:
- 120583
- •Concept ID:
- C0266568
- •
- Congenital Abnormality
Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.
Optic nerve hypoplasia- MedGen UID:
- 137901
- •Concept ID:
- C0338502
- •
- Disease or Syndrome
Underdevelopment of the optic nerve.
Morning glory syndrome- MedGen UID:
- 767635
- •Concept ID:
- C3554721
- •
- Congenital Abnormality
An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.
Visual impairment- MedGen UID:
- 777085
- •Concept ID:
- C3665347
- •
- Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Optic nerve aplasia- MedGen UID:
- 866737
- •Concept ID:
- C4021084
- •
- Finding
Congenital absence of the optic nerve.