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Boletín Clínico de la Asociación Médica del Hospital Infantil del Estado de Sonora

2009, Number 1

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Bol Clin Hosp Infant Edo Son 2009; 26 (1)

Anoftalmia en Tres Hermanos. Reporte de Caso

Sosa-Cruz EF, Gutiérrez-Torres PI, Ordaz C, Villaroel-Cortes C, Palacios-Acosta JM

Language: Spanish
References: 9
Page: 51-52
PDF size: 172.65 Kb.


ABSTRACT

Bilateral anophtalmos is a rare defect and less frequent entity. Congenital abscence of any ocular structure or arrest development or only an hystological sample may be present. Eyelids may be present and often adhered but can be separated. Anophtalmos can be associated to SOx2 chromosome or 0bp gene depletion.
Approximate incidence is 1:1000 wich demands to report this case in order to increase the numbers in the literature and to analyze the diagnosis, treatment and progress related to this rare defect.


REFERENCES

  1. 1.- Warburg M. Classification of microphthalmos and coloboma. J Med Genet 1993: 30: 664-9.

  2. 2.- Morrison D, FitzPatrick D, Hanson I et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 2002: 39: 16-22.

  3. 3.- Harmon HL, Gossman MD, Buchino JJ, Eberly SM. Roberts DM, Fishman PH. Orbital gangliglioma arising from ectopic neural tissue. Am J Ophthalmol. 2000; 129: 109-11.

  4. 4.- Scheiner AJ, Frayer WC, Rorke LB, Heher K. Ectopia brain tissue in the orbit. Eye. 1999; 13: 251-4.

  5. 5.- Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 1994: 7: 463-71.

  6. 6.- Voronina VA, Kozhemyakina EA, O’Kernick CM et al. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet 2004: 13: 315-22.

  7. 7.- Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Hum Genet 2004: 115: 302-9.

  8. 8.- Fantes J, Ragge NK, Lynch SA et al. Mutations in SOX2 cause anophthalmia. Nat Genet 2003: 33: 461–3.

  9. 9.- Vemuganti GK, Shekar CG. Ectopic brain presenting as orbital and conjunctival mass: a case report. Orbit.1999; 18: 305-10.




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