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At a glance

It is an inherited syndrome characterized by multiple ocular malformations in association with microcephaly. It is more commonly found in premature infants and in single infants of multiple births. It is characterized by the presence of retinal and cerebral dysplasia, microphthalmos, retinal choroid and optic nerve malformations, retinal glial membranes, hyperplasia or aplasia of the brain and cerebellum, and microcephaly. Other features include mental retardation, hydrocephalus, blindness, enophthalmos, microphthalmos, strabismus, retinal atrophy, gliosis, retinal and vitreous hemorrhages, synechiae, glaucoma, and cataract.

Synonyms

Encephalo-Ophthalmic Dysplasia; Congenital Encephalo-Ophthalmic Dysplasia; Encephalo-Ophthalmic Syndrome; Ophthalmo-Encephalic Dysplasia; Reese-Blodi Retinal Dysplasia; Reese-Blodi-Krause Syndrome.

History

This medical condition was originally described in 1936 by Dr Arlington C. Krause (1896-1980), an American ophthalmologist. He was associated to Dr Frederick C. Blodi (1917-1996), an Austrian-American ophthalmologist, and Dr Algerton B. Reese (1896-1981), also an American ophthalmologist.

Incidence

It is an extremely rare medical condition.

Genetic inheritance

Autosomal recessive inheritance trait has been suggested. However, in one family inheritance was described as autosomal dominant with variable expressivity.

Clinical aspects

The presence of microcephaly, retinal and cerebral dysplasia, are more commonly found in premature infants and single infants of multiple birth. Ocular findings include microphthalmos, enophthalmos, persistence of the primary vitreous, intraocular hemorrhages, retinal choroid and optic nerve malformations, glaucoma, cataracts, strabismus, retinal atrophy, and blindness. Hyperplasia or aplasia of the cerebrum and cerebellum can occur, resulting in hydrocephalus and mental retardation.

Anesthetic considerations

Increased intracranial pressure may be present. Developmental delay may make cooperation more difficult. Avoid succinylcholine in the presence of glaucoma.

Other conditions to be considered

  • HARD (±) E Syndrome: An acronymic syndrome (Hydrocephalus, Agyria, Retinal Dysplasia) that is occasionally associated with an occipital Encephalocele (± E). Other features include micropenis, cryptorchidism, hydronephrosis, pelviureteral junction obstruction, anoperineal fistula. It is usually lethal within the first months of life. Inheritance is autosomal recessive.

  • Bartholin-Patau Syndrome: Congenital multiorgan condition produced by trisomy of chromosome number 13. The onset of the disease is from birth. It affects the head, brain, ears, eyes, cardiovascular system, spleen, reproductive system, pancreas, and other organs. The clinical presentation includes scalp defects, coloboma, hypertelorism, cleft lip/palate, deformed ears, congenital heart disease, microcephaly, sloping forehead, wide sagittal suture and fontanelles, an abnormal thumb, hydronephrosis, hydroureter, microphthalmia, single umbilical artery, umbilical hernia, bicornate uterus, and mental retardation. Recurrent respiratory infections with episodes of cyanosis and apnea are characteristics of the disease. All patients affected with this medical condition are virtually totally deaf. The life expectancy is no more than 10 years, and most infants die during the first 3 months of life. The original description was reported by Thomas Bartholin in 1656. Further ...

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