Rare inherited neurodevelopmental disorder
characterized by congenital bilateral blindness. Other features can include
mental retardation, mild-to-profound hearing loss, and cataracts during
early infancy. Phthisis bulbi (shrinking of the eye) has been reported.
Anderson-Warburg Syndrome; Fetal Iritis Syndrome;
Whitnall-Norman Syndrome; Atrophia Bulborum Hereditaria; Congenital
Progressive Oculo-Acoustico-Cerebral Degeneration; Norrie-Warburg Syndrome;
Norrie Syndrome; Episkopi Blindness.
Norrie disease has been described in patients of various
ethnical backgrounds (White, Hispanic, Sri Lankan, Asian, and Canadian
One hundred cases have been described. Clinical
expression almost exclusively in males.
X-linked recessive disorder. Rare reports of
presumed manifesting heterozygote females exist. The Norrie disease gene is
located on the short arm of chromosome X (Xp11.4). It consists of three
exons and encodes for a protein named norrin.
Based on clinical features, mode of inheritance, and
Characterized by microphthalmia with bilateral
degeneration of the retina and vitreous humor leading to early blindness,
usually within the first weeks of life. Characteristic ocular findings
include retinal detachment, vitreous hemorrhage, and formation of
retrolental masses. Pupils are dilated with no light reflex. Cataracts.
Phthisis bulbi (shrinkage of the eyeball) develops over the first decade of
life. In approximately one third of Norrie disease patients, progressive
sensorineural hearing loss occurs, with age at onset varying from a few
months of life to adulthood. Some degree of mental retardation is frequent
(up to 50% of patients), although many individuals have normal
intellectual capabilities. Several individuals with complex syndromic anomalies have
been described in whom Norrie disease was part of the clinical findings.
Associated anomalies in these cases included hypogonadism, increased
susceptibility to infections, skeletal malformations, and a combination of
facial features, including hypotelorism, narrow nasal bridge, thin upper
lip, and large ears.
No literature describing anesthetic
experiences in Norrie disease patients. However, adequate anxiolysis is
particularly important in patients with deafness and mental retardation.
Known features of Norrie disease do not
suggest an increased risk of anesthesia.
Submicroscopic deletions in the
monoamine oxidase (MAO) loci have been described in Norrie disease patients.
Although some of these individuals had normal MAO activities, a few were
shown to have reduced to nondetectable MAO activity. It seems prudent to
minimize drugs associated with an increased risk of adverse reactions when
combined with MAO inhibitors such as meperidine.
X-linked Familial Exudative Vitreoretinopathy (FEVR):
Disorder linked to mutations on the Norrie disease gene. Unlike Norrie
disease, FEVR is not associated with hearing loss or mental retardation.
Coats Disease: Extremely rare disorder characterized by dilation
of the retinal blood vessels resulting in vitreous hemorrhages. Retinal
detachment has been reported. Leukokoria (white membrane or mass behind the
lens) may develop.
Usher Syndrome: Characterized by hearing loss, retinitis
pigmentosa, and progressive blindness.
Collins FA, Murphy DL, Reiss AL, et al: Clinical, ...