American Journal of Ophthalmology
Volume 146, Issue 4 , Pages 602-611.e1 , October 2008

Ophthalmological Aspects of Pierson Syndrome

  • Cecilie Bredrup

      Affiliations

    • Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway
    • Department of Clinical Medicine, University of Bergen, Bergen, Norway
    • Great Ormond Street Hospital for Children, London, United Kingdom
    • ,
  • Verena Matejas

      Affiliations

    • Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Erlangen, Germany
    • ,
  • Margaret Barrow

      Affiliations

    • Leicester Royal Infirmary, Leicester, United Kingdom
    • ,
  • Květa Bláhová

      Affiliations

    • Charles University, Prague, Czech Republic
    • ,
  • Detlef Bockenhauer

      Affiliations

    • Great Ormond Street Hospital for Children, London, United Kingdom
    • ,
  • Darren J. Fowler

      Affiliations

    • Great Ormond Street Hospital for Children, London, United Kingdom
    • ,
  • Richard M. Gregson

      Affiliations

    • Queen's Medical Centre, Nottingham, United Kingdom
    • ,
  • Iwona Maruniak-Chudek

      Affiliations

    • Medical University of Silesia, Katowice, Poland
    • ,
  • Ana Medeira

      Affiliations

    • Hospital Santa Maria, Lisbon, Portugal
    • ,
  • Erica Laima Mendonça

      Affiliations

    • Hospital Santa Maria, Lisbon, Portugal
    • ,
  • Mikhail Kagan

      Affiliations

    • Orenburg Regional Children's Hospital, Orenburg, Russia
    • ,
  • Jens Koenig

      Affiliations

    • University Children's Hospital, Munster, Germany
    • ,
  • Hermann Krastel

      Affiliations

    • Department of Ophthalmology, University of Heidelberg, Germany
    • ,
  • Hester Y. Kroes

      Affiliations

    • University Medical Center Utrecht, Utrecht, The Netherlands
    • ,
  • Anand Saggar

      Affiliations

    • St George's University of London, London, United Kingdom
    • ,
  • Taylor Sawyer

      Affiliations

    • Tripler Army Medical Center, Honolulu, Hawaii
    • ,
  • Michael Schittkowski

      Affiliations

    • University Hospital Rostock, Rostock, Germany
    • ,
  • Janusz Świetliński

      Affiliations

    • The Children's Memorial Health Institute, Warsaw, Poland
    • ,
  • Dorothy Thompson

      Affiliations

    • Great Ormond Street Hospital for Children, London, United Kingdom
    • ,
  • Rene G. VanDeVoorde

      Affiliations

    • Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
    • ,
  • Dienke Wittebol-Post

      Affiliations

    • University Medical Center Utrecht, Utrecht, The Netherlands
    • ,
  • Geoffrey Woodruff

      Affiliations

    • Leicester Royal Infirmary, Leicester, United Kingdom
    • ,
  • Aleksandra Zurowska

      Affiliations

    • Department Pediatric and Adolescent Nephrology and Hypertension, Gdansk University Medical School, Gdansk, Poland
    • ,
  • Raoul C. Hennekam

      Affiliations

    • Great Ormond Street Hospital for Children, London, United Kingdom
    • ,
  • Martin Zenker

      Affiliations

    • Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Erlangen, Germany
    • ,
  • Isabelle Russell-Eggitt

      Affiliations

    • Great Ormond Street Hospital for Children, London, United Kingdom
    • Corresponding Author InformationInquiries to Isabelle Russell-Eggitt, Department of Ophthalmology, Great Ormond Street Hospital for Children, London WC1N 3JH, United Kingdom

,Accepted 28 May 2008.

References 

  1. Pierson M, Cordier J, Hervouuet F, Rauber G. An unusual congenital and familial congenital malformative combination involving the eye and kidney. J Genet Hum. 1963;12:184–213
  2. Zenker M, Tralau T, Lennert T, et al. Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A. 2004;130:138–145
  3. Zenker M, Aigner T, Wendler O, et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet. 2004;13:2625–2632
  4. Hasselbacher K, Wiggins RC, Matejas V, et al. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 2006;70:1008–1012
  5. Glastre C, Cochat P, Bouvier R, et al. Familial infantile nephrotic syndrome with ocular abnormalities. Pediatr Nephrol. 1990;4:340–342
  6. Amirlak I, Sabnis SG, Al-Gazali L, Abdulrazzaq YM. A syndrome of immune complex glomerulonephritis and ophthalmic abnormalities. J Med Genet. 1999;36:641–644
  7. Matejas V, Al-Gazali L, Amirlak I, Zenker M. A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant. 2006;21:3283–3286
  8. Wuhl E, Kogan J, Zurowska A, et al. Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A. 2007;143a:311–319
  9. Swietlinski J, Maruniak-Chudek I, Niemir ZI, Wozniak A, Wilinska M, Zacharzewska J. A case of atypical congenital nephrotic syndrome. Pediatr Nephrol. 2004;19:349–352
  10. Zurowska A, Zaluska-Lesniewska I, Zenker M. LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia. Przegl Lek. 2006;63:37–39
  11. VanDeVoorde R, Witte D, Kogan J, Goebel J. Pierson syndrome: a novel cause of congenital nephrotic syndrome. Pediatrics. 2006;118:e501–e505
  12. Sorsby A, Sheridan M. The eye at birth: measurement of the principal diameters in forty-eight cadavers. J Anat. 1960;94:192–197
  13. Larsen JS. The sagittal growth of the eye (IV. Ultrasonic measurement of the axial length of the eye from birth to puberty). Acta Ophthalmol (Copenh). 1971;49:873–886
  14. Mark K, Reis A, Zenker M. Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. Prenat Diagn. 2006;26:262–266
  15. Zenker M, Pierson M, Jonveaux P, Reis A. Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago. Am J Med Genet A. 2005;138a:73–74
  16. Bystrom B, Virtanen I, Rousselle P, Gullberg D, Pedrosa-Domellof F. Distribution of laminins in the developing human eye. Invest Ophthalmol Vis Sci. 2006;47:777–785
  17. Ljubimov AV, Burgeson RE, Butkowski RJ, Michael AF, Sun TT, Kenney MC. Human corneal basement membrane heterogeneity: topographical differences in the expression of type IV collagen and laminin isoforms. Lab Invest. 1995;72:461–473
  18. Wang TH, Lindsey JD, Weinreb RN. Laminin subtype distribution in the human ciliary body. Invest Ophthalmol Vis Sci. 1994;35:3776–3782
  19. Libby RT, Lavallee CR, Balkema GW, Brunken WJ, Hunter DD. Disruption of laminin beta2 chain production causes alterations in morphology and function in the CNS. J Neurosci. 1999;19:9399–9411
  20. Mitsuhashi Y, Hashimoto I. Genetic abnormalities and clinical classification of epidermolysis bullosa. Arch Dermatol Res. 2003;295:S29–S33

PII: S0002-9394(08)00425-X

doi: 10.1016/j.ajo.2008.05.039

American Journal of Ophthalmology
Volume 146, Issue 4 , Pages 602-611.e1 , October 2008

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