Cockayne's syndrome with unusual retinal involvement (a family report)

Cockayne's syndrome is a very rare autosomal recessive affection. Ocular in volvement is an essential element for positive diagnosis; the retina shows a typical salt and pepper retinitis with optical atrophy. We report a famil y with four brothers who had Cockayne's syndrome with unusual retinal invol vement. The patients' parents were first cousins. Ophthalmologic examinatio n of the mother showed unilateral left pigmentary retinopathy localized in the peripapillary region. The father's ophthalmological examination was nor mal. The four brothers presented disharmonious dwarfism, cutaneous hyperpig mentation of skin areas exposed to sun with old-appearance of the skin, sen sorineural deafness, kyphoscoliosis, a cerebellar syndrome and mental retar dation. The ophthalmological examination showed hypermetropia in ail four b rothers and bilateral maculopathy with no papillary or vascular abnormaliti es. The electroretinogram was in favor of cone dystrophy. Computed tomograp hy showed one case of calcifications of the basal ganglia and cerebral atro phy. The karyotypes of the four brothers and the mother were normal. We dis cuss the ocular symptoms and the etiopathogenesis of this syndrome.