Detail Article

Jurnal Oftalmologi Indonesia

ISSN 1693-2587

Vol. 5 / No. 3 / Published : 2001-01

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Original Article :

Sindroma laurence-moon-bardet-biedl

Author :

  1. Hartono*1
  2. Fitria Natliani*2
  1. Department of Ophthalmology Faculty of Medicine Gadjah Mada University/Dr. Sardjito General Hospital Yogyakarta

Abstract :

The purpose of this case report is to report a case of rare monogenic disease with recessive autosomal inheritance named Laurence-Moon-Bardet-Biedl syndrome. A 15-year-old obese boy with decrease vision of both eyes (OU 6/12) especially at night, accompaniedwith speech or communication difficulties and learning disabilities. The examination revealed postaxial polydactyly on his right andleft fingers and his right toe that has underwent operation. Funduscopy showed retinitis pigmentosa and severe depression in visualfield examination. Laurence-Moon-Bardet-Biedl syndrome has been suspected in a child with pigment clumping. Surgical removal ofextra fingers and toes has been done that make difficulty of making diagnose if the examiners are not aware about this preoperativeextra fingers and toes (polydactily).

Keyword :

Laurence-Moon-Bardet-Biedl syndrome, retinitis pigmentosa, polydactyly, mental retardation,

References :

Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA,(1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: result of a population survey - : J Med Genet

Levy M, Lotem M, Fried A,(1970) The Laurence-Moon-Biedl-Bardet syndrome: report of three cases in a jewish yemenite family - : J Bone Joint Surg

Hannoun M,(2000) Laurence-Moon-Bardet-Biedl Syndrome USA : The Resource Foundation for Children with Challenge

Archive Article

Cover Media Content

Volume : 5 / No. : 3 / Pub. : 2008-12
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