Krause-Reese Syndrome

Inherited syndrome characterized by multiple ocular malformations and microcephaly, more commonly found in premature infants.

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

Extremely rare. Autosomal recessive inheritance has been suggested, although in one family inheritance was described as autosomal dominant with variable expressivity.

Microcephaly and retinal and cerebral dysplasia, 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.

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

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