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Krause-Reese syndrome (Arlington Colton Krause)

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A syndrome of retinal and cerebral dysplasia more commonly found in premature infants and in single infants of multiple birth. Marked by microphthalmos, retinal choroid and optic nerve malformations, retinal glial membranes, cones, and septa; persistent remains of the hyaloid artery; hypertrophy, hyperplasia or aplasia of the brain and cerebellum; and microcephaly. Mental retardation, hydrocephalus, blindness, enophthalmos, microphthalmos, strabismus, retinal atrophy, gliosis, retinal and vitreous haemorrhages, synechiae, glaucoma, and cataract are the most common clinical features. A combined, congenital and usually familial occurring disease picture of unknown aetiology. Inheritance may be autosomal recessive. In one described family inheritance was autosomal dominant with variable expressivity.

According to one author, this eponym is used to indicate ophthalmic hypoplasia as most characteristic feature of Bartholin-Patau syndrome.
Probably first described by Stephan Bernheimer (1861-1918) in 1891, and Dötsch 1899. Krause in 1946 described 18 infants.

See also Walker-Warburg syndrome, or cerebro-ocular dysgenesis, under Arthur Earl Walker, American neurologist, born 1907.


  • S. Bernheimer, in:
    Archiv für Ophthalmologie, Berlin, 1891, 37: 192.
  • A. Dötsch:
    Anatomische Untersuchungen eines Falles von Mikrophthalmus congenitus bilateralis.
    Archiv für Ophthalmologie, Berlin, 1899, 48: 59.
  • A. C. Krause:
    Congenital encephalo-ophthalmic dysplasia.
    Archives of Ophthalmology, Chicago, 1946, 36: 387-444.
  • P. François:
    Le pseudogliome oculaire. Thèse de Paris, 1947.
  • A. B. Reese, F. C. Blodi:
    Retinal dysplasia.
    American Journal of Ophthalmology, Chicago, 1950, 33: 23-32.

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