Nettleship's syndrome II

Alternative eponyms

Related people

A sex-linked ocular albinism syndrome.

Description

Onset from birth. Males: severely affected. Skin normal or mottled with presence of pigmented nevi and freckles. Hair normal to light coloured. Eyes normal colour range. Nystagmus and photophobia present; moderate to severe vision reduction. Head nodding and tilting (50%). Strabismus (60%). Reproductive system anomalies common. Females: carriers with absent signs or, occasionally, as severely affected as males. X-linked inheritance.

See also Forsius-Eriksson syndrome, or Åland disease, under Henrik Forsius, Finnish ophthalmologist.

Bibliography

  • E. Nettleship:
    On some hereditary diseases of the eye.
    Transactions of the Ophthalmological Societies of the United Kingdom, 1908-1909, 29: 57-198.
  • H. F. Falls:
    Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote.
    American Journal of Ophthalmology, Chicago, 1951, 34: 41-50.
  • H. Forsius, A. W. Eriksson:
    Ein neues Augensyndrom mit X-chromosomaler Transmission. Eine Sippe mit Fundusalbinismus, Foveahypoplasie, Nystagmus, Myopie, Astigmatismus und Dyschromatopsie.
    Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1964, 144: 447-457.
    Forsius-Eriksson syndrome: ocular albinism II, or Åland disease.

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