[Ocular albinism in pediatric patients with nystagmus]

Klin Oczna. 2006;108(4-6):170-3.
[Article in Polish]

Abstract

Purpose: Presentation of diagnostic methods and results obtained in childre with nystagmus, with suspicion of ocular albinism.

Material and methods: Records of 9 children (range 0.2 to 5.5 years) are presented. In all cases family history, ophthalmic examination and visual evoked potentials were analyzed.

Results: Clinical signs of ocular albinism were found in all patients. 2 children had cutaneous albinism, VEP records of 7 children indicated abnormalities typical for albinism, clinical signs of gene carrying were found in 7 mothers.

Conclusions: Clinical signs enable us to diagnose ocular albinism with relatively high probability, nevertheless characteristic VEP records confirm diagnosis in clinically difficult cases.

Publication types

  • English Abstract

MeSH terms

  • Albinism, Oculocutaneous / complications*
  • Albinism, Oculocutaneous / diagnosis*
  • Albinism, Oculocutaneous / genetics
  • Child, Preschool
  • Evoked Potentials, Visual
  • Female
  • Humans
  • Infant
  • Male
  • Nystagmus, Congenital / complications*
  • Nystagmus, Congenital / diagnosis*
  • Photic Stimulation
  • Visual Acuity