A number of ophthalmological findings can be identified in a patient with Gaucher disease.
Patient selection: Gaucher disease (deficiency in lysosomal glucocerebrosidase)
Ophthalmological changes seen in a patient with Gaucher disease may involve:
(1) retinal white spots
(2) vitreous deposits
(3) retinal thinning
(4) corneal opacities
(5) uveitis
(6) conjunctival pingueculae
(7) strabismus
(8) oculomotor abnormalities with horizontal saccades (type 3) and/or vertical saccades
Corneal opacities can be seen in patients with D409H the genotype, which may have cardiac valvular calcifications.
Saccade initiation failure may be accompanied by head thrust (turning of the head in order to follow objects in the periphery.
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Specialty: Ophthalmology, Endocrinology, Genetics
