May 2006
Volume 47, Issue 13
ARVO Annual Meeting Abstract  |   May 2006
Clinical and Genetic Study of a Cohort of 26 patients with Micro–Anophthalmia
Author Affiliations & Notes
  • P. Bitoun
    Hopital Jean Verdier CHU Paris–Nord, Bondy, France
    Medical Genetics,
  • C. Edelson
    Ophtalmologie Pédiatrique, Fondation Ophtalmologique Rothschild, Paris, France
  • M. Meyer–Charuel
    Ophtalmologie Pédiatrique, SIDVA 91, Savigny s/O, France
  • B. Benzacken
    Hopital Jean Verdier CHU Paris–Nord, Bondy, France
    Embryo–Cytogénetique et Biologie de la Reproduction,
  • E. Semina
    Molecular Genetics, Medical College of Wisconsin, Milwaukee, WI
  • L. Benzacken
    Ophtalmologie, Hopital Robert Ballanger, Aulnay s/b, France
  • S. Bitoun
    Universite paris VI, Paris, France
  • J. Murray
    Pediatrics and Biological Sciences, University of Iowa, Iowa City, IA
  • J. Gaudelus
    Hopital Jean Verdier CHU Paris–Nord, Bondy, France
  • Footnotes
    Commercial Relationships  P. Bitoun, None; C. Edelson, None; M. Meyer–Charuel, None; B. Benzacken, None; E. Semina, None; L. Benzacken, None; S. Bitoun, None; J. Murray, None; J. Gaudelus, None.
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 4618. doi:
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      P. Bitoun, C. Edelson, M. Meyer–Charuel, B. Benzacken, E. Semina, L. Benzacken, S. Bitoun, J. Murray, J. Gaudelus; Clinical and Genetic Study of a Cohort of 26 patients with Micro–Anophthalmia . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4618.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: : :To study the clinical phenotype and genetic causes of a cohort of 26 consecutive patients with congenital micro/anophthalmia (MA) seen at a pediatric eye clinic.

Methods: : Patients where assessed by a pediatric ophthalmologist and an ophthalmic geneticist to define ocular and extra ocular dysmorphogy phenotype. Brain MRI , karyotype telomeric screen and CGH array were done on some patients.Gene mutation analysis performed by pcr and sequencing are ongoing for several genes including PITX3,OTX2,SOX2,BCOR,ND,NHS,LRP5

Results: : The cohort was divided into primary and secondary MA (post infectious, post–surgical, post retinal detachment or post–phthisis) The cohort is comprised of 26 patients 2 months to 28 years (average 6 years), 7 (27%) females and 19 (63%)males.20 patients(77%) had primary MA and 6 (23%)had secondary MA. Blindness affected 12/20 (60%) patients with primary MA versus 2/6 (33%) with secondary MA. Patients were classified as ocular alone in 4/20 ( 25%) of primary MA versus 6/6 (100%) with secondary MA or syndromic in 75% of primary MA versus none of the secondary MA patients. MA was unilateral in 2/20 (10%) of primary MA and in 3/6 (50%) of secondary MA patients. 2/20 patients with primary MA died and none of the 6 secondary MA. Associated findings in syndromic cases included brain, neurologic,pituitary,mental retardation ,autism,dental,cleft palate,cardiac, pulmonary,diaphragmatic,genito–urinary, limb,or bone disorder. Genetic evaluation showed 5 familial case (4 autosomal dominant and one possibly autosomal recessive). One patient had a ring chromosome 18; 2 patients had Norrie disease(ND), one had Nance Horan (cataract dental) syndrome (NHS)

Conclusions: : Primary congenital MA is a moderately severe bilateral(90%)sometimes familial (15%)syndromic (75%)rarely lethal (10%)disorder affecting mostly males(63%),causing blindness(60%) associated with multiple malformations. The excess of males and the paucity of X linked genes involved seems to imply that most X linked genes involved with MA are yet unknown

Keywords: genetics • clinical (human) or epidemiologic studies: natural history • development 

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