Cockayne syndrome (dwarfism with retinal atrophy and deafness; mickey mouse syndrome)   260

General: Autosomal recessive; onset in second year of life; wide spectrum of symptoms and severity of the disease suggest that biochemical and genetic 454h75e heterogeneity exist.

Ocular: Enophthalmos; cataracts; pigmentary degeneration of retina; optic atrophy; band keratopathy; exotropia; nystagmus; absence of foveal reflex; corneal dystrophy; corneal perforation; anhidrosis; exposure keratitis; decreased blinking.

Clinical: Dwarfism (nanism) with disproportionately long limbs, large hands, and large feet; kyphosis; deformed limbs; thickened skull; intracranial calcifications; mental retardation; prognathism; deafness (often partial); precociously senile appearance; sensitivity to sunlight, with skin pigmentation and scarring; dental caries.

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Cockayne EA. Dwarfism with Retinal atrophy and deafness. Arch Child 1961; 11: 1.

Coles WH. Ocular manifestations of Cockayne's syndrome. Am J Ophthalmol 1969; 67:762-764.

Fraunfelder FT, Roy FH, eds. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Levin PS, et al. Histopathology of the eye in Cockayne's syndrome. Arch Ophthalmol 1983; 101:1093-l097.

Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42:68-84.

Pearce WG. Ocular and genetic features of Cockayne's syndrome. Can J Ophthalmol 1972; 7:435-444.

Traboulsi EI, et al. Ocular findings in Cockayne syndrome. Am J Ophthalmol 1992; 114:579-583.