title: [Cockayne's syndrome with unusual retinal involvement (report of one family)].
abstract: Cockayne's syndrome is a very rare autosomal recessive affection. Ocular involvement is an essential element for positive diagnosis; the retina shows a typical salt and pepper retinitis with optical atrophy. We report a family with four brothers who had Cockayne's syndrome with unusual retinal involvement. The patients' parents were first cousins. Ophthalmologic examination of the mother showed unilateral left pigmentary retinopathy localized in the peripapillary region. The father's ophthalmological examination was normal. The four brothers presented disharmonious dwarfism, cutaneous hyperpigmentation of skin areas exposed to sun with old-appearance of the skin, sensorineural deafness, kyphoscoliosis, a cerebellar syndrome and mental retardation. The ophthalmological examination showed hypermetropia in all four brothers and bilateral maculopathy with no papillary or vascular abnormalities. The electroretinogram was in favor of cone dystrophy. Computed tomography showed one case of calcifications of the basal ganglia and cerebral atrophy. The karyotypes of the four brothers and the mother were normal. We discuss the ocular symptoms and the etiopathogenesis of this syndrome.
authors.affiliation: Service d'Ophtalmologie, Hôpital 20 Août 1953, Casablanca, Maroc.
authors.forename: M
authors.initials: M
authors.lastname: Hamdani
authors.forename: A
authors.initials: A
authors.lastname: El Kettani
authors.forename: L
authors.initials: L
authors.lastname: Rais
authors.forename: M
authors.initials: M
authors.lastname: Benhaddou
authors.forename: N
authors.initials: N
authors.lastname: Hda
authors.forename: R
authors.initials: R
authors.lastname: Rachid
authors.forename: M
authors.initials: M
authors.lastname: El Belhadji
authors.forename: N
authors.initials: N
authors.lastname: Laouissi
authors.forename: K
authors.initials: K
authors.lastname: Zaghloul
authors.forename: A
authors.initials: A
authors.lastname: Benslimane
authors.forename: A
authors.initials: A
authors.lastname: Amraoui
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D003057:Cockayne Syndrome / Q000235:genetics* / Q000473:pathology*; D003241:Consanguinity; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D010375:Pedigree; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D014057:Tomography, X-Ray Computed