Rare Diseases Symptoms Automatic Extraction

Presence of fusion in albinism after strabismus surgery augmented with botulinum toxin (type a) injection.

[oculocutaneous albinism]

It is commonly accepted that albino patients with strabismus rarely achieve binocularity and depth perception after strabismus surgery. The presence of retino-geniculo-cortical misrouting, a hallmark of the visual system in albinism, does not necessarily cause total loss of binocular vision, however, not even in albino patients with strabismus. Recently some degrees of stereopsis were reported in albinism patients with minimal clinical nystagmus, if any, in the absence of strabismus. It is possible that patients with albinism and strabismus have binocular visual potential which appears after strabismus correction and provides appropriate postoperative alignment in the long term. Here we present two cases of clinically diagnosed oculocutaneous albinism, an 18-year-old girl and a 16-year-old boy, both with exotropia ≥40 prism diopter, who gained acceptable alignment and fusion after surgical correction of their strabismus as demonstrated on Bagolini testing. In cases of albinism accompanied by visual pathway abnormalities and strabismus, binocular visual potential is not impossible, and some levels can be expected. Thus, these patients, like other cases of strabismus, may benefit from treatment of strabismus at an earlier age to achieve appropriate alignment, cosmetic satisfaction, and a possibly increased chance of fusion.

Diseases presenting "nystagmus" symptom

  • aniridia
  • gm1 gangliosidosis
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • oculocutaneous albinism
  • primary hyperoxaluria type 1
  • well-differentiated liposarcoma
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated