title: Mulibrey nanism, an autosomal recessive syndrome with ocular involvement.
abstract: Mulibrey nanism is a rare autosomal recessive condition characterized by a growth failure of pre-natal onset and several associated dysmorphic features. On ophthalmoscopy the optic disc and macula have a normal appearance while the midperiphery and more peripheral areas have revealed hypopigmentation and pigment scattering. By fluorescein angiography areas of focal choroidal hypoplasia have been noted. Histopathological examination of a typical case revealed atrophy of the corneal epithelium and thickening of the Bowman's membrane. The optic nerve and the macula appeared normal while the midperiphery showed focal choroidal hypoplasia with marked atrophy of the retina and of the pigment epithelium. Occasional drusen were also noted in this area. The findings do confirm the hypothesis that the choroidal changes represent one further manifestation originating from mesodermal tissues in these patients.
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D001485:Basement Membrane / Q000473:pathology; D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002829:Choroid / Q000473:pathology; D003315:Cornea / Q000473:pathology; D004392:Dwarfism / Q000235:genetics*; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000002:abnormalities; D008297:Male; D009132:Muscles / Q000002:abnormalities; D009896:Optic Atrophy / Q000235:genetics; D010857:Pigment Epithelium of Eye / Q000473:pathology; D013577:Syndrome