UNIVERSITAS AIRLANGGA



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
  1. C Y T O K I N E S
  2. Skin Flap Pada Kelopak Mata
  3. Fitting Lensa Kontak Rigid Gas Permeable (rgp)
  4. Teknik Pembedahan Rekonstruksi Pasca Eksisi Tumor Ganas Kelopak Mata
  5. Diplopia Binokuler Akibat Paresis N Iii, Iv Dan Vi Di Rs Mata Dr. Yap Yogyakarta
  6. Comparison Of P53 Expression In Hpv(+) And Hpv(-) In Conjunctival And Eyelid Squamous Neoplasia
  7. The Comparison Of Tetracycline And Doxycycline Treatment On Corneal Epithelial Wound Healing In The Rabbit Acid-burn Model
  8. Dandy Walker Syndrome In 7 Month-old Boy
  9. Combination Of Cutler -beard Flap,v-y Glabellar Flap And Direct Closure For Large Resection Upper Eyelid And Medial Canthus
  10. Limbal Stem Cell Transplantation In Limbal Stem Cell Deficiency After Steven Johnson Syndrome
  11. Hypoglobus And Ptosis Reconstruction After Lacrimal Benign Mesenchymal Tumor Excision
  12. Association Between Refractive Changes And Blood Glucose Changes In Diabetic Mellitus Type 2 Patient
  13. Management Of The Complication After Silicone Fluid Injection At Facial And Eyelid Region
  14. The Difference Of Epidermal Growth Factor Concentration Between Fresh And Freeze-dried Amniotic Membranes
  15. Sindroma Laurence-moon-bardet-biedl
  16. Bilateral Orbital Apex Syndrome
  17. Clinical Difference Between Autograft Post Operated Pterygium Using Fibrin Glue And Polyglycolic Acid 10-0 Suture

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