Congenital ptosis

Congenital ptosis is characterized by superior eyelid drop present at birth.

Nystagmus

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.


Total: 1

                       


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PMID (PMCID)
15702131
 FEMALE Adult
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
Bremond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A.
Eur J Hum Genet. 2005;13(4):409-13.
She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis.