Mette Warburg (1926 - 2015)

Mette Warburg (1926 – 2015) was a Danish ophthalmologist.

Initially entering pathology, Warburg turned to ophthalmology on account of the lack of career prospects in pathology in Denmark.

Warburg developed a special interest in ophthalmology of the mentally retarded, both for the provision of visual aid services and in research, particularly the delineation of new genetic syndromes involving the eye in multiple handicapped children. She is eponymously known for Walker-Warburg syndrome, first published in 1971.

  • 1926 – Born January 23 in Copenhagen
  • 1952 – Graduated medicine, University of Copenhagen
  • 1963 – Associate professor of ophthalmology at Aarhus university
  • 1967 – Defended her dissertation on Norrie’s disease – hereditary blindness, combined with hardness of hearing and ability weakness, described by Dane Gordon Norrie (1855-1941)
  • 1971 – Care Center Lillemosegård, Buddinge
  • 1974 – Chief physician at the children’s hospital in Vangede
  • 1980 – Tagea Brandt Scholarship
  • Centre for Handicapped Children, Division of Paediatric Ophthalmology and Handicaps, Gentofte, Denmark
  • 2015 – Died March 11

Medical Eponyms
Walker-Warburg syndrome (1971)

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB). It is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. [OMIM #236670]

1942 – Arthur Earl Walker (1907-1995) first reported a syndrome of lissencephaly (Greek, ‘smooth brain’), hydrocephalus, microphthalmia, and retinal dysplasia.

A number of features, each a rarity, made this case unique. The absence of fissuration of the cerebral cortex, the agenesis of the corpus callosum, the lack of ocular development, the incomplete formation of the cerebellum and the maldevelopment of the subarachnoid space are unusual occurrences.

A. Earl Walker, 1942

1971 – Warburg described the heterogeneity of microphthalmia. In 1976, Warburg et al reviewed reports of 15 cases with an association between hydrocephalus and congenital retinal detachment. In 1978 Warburg observed this association in the son of first-cousin parents and proposed autosomal recessive inheritance

1989 – Dobyns et al described the diagnostic criteria for Walker-Warburg syndrome as the HARD +/- E syndrome, for (H) hydrocephalus, (A) agyria , (RD) retinal dysplasia, with or without (+/-E) encephalocele.

Major Publications



Eponymous terms

Dr Jenny Stuart-Smith LITFL author

Graduated from Cardiff Medical School in 2017 with MBBCh and BSc in Psychology and Medicine. Currently working as a doctor in the emergency department at Sir Charles Gairdner Hospital in Perth, Australia.

BA MA (Oxon) MBChB (Edin) FACEM FFSEM. Emergency physician, Sir Charles Gairdner Hospital.  Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |

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