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Revista Odontológica Mexicana Órgano Oficial de la Facultad de Odontología UNAM

ISSN 1870-199X (Print)
Órgano oficial de la Facultad de Odontología, UNAM
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2014, Number 1

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Rev Odont Mex 2014; 18 (1)

Leber’s congenital amaurosis. Case report

Quintino CE, López MPM, Mendoza RV
Full text How to cite this article

Language: Spanish
References: 11
Page: 38-42
PDF size: 376.58 Kb.


Key words:

Leber’s congenital amaurosis, congenital blindness.

ABSTRACT

Leber’s congenital amaurosis is an heterogeneous and genetic clinical disorder characterized by severe loss of vision at birth. It accounts for 10 to 18% of congenital blindness cases. Some patients exhibit solely retinal blindness and show evidence of multi-systemic involvement. The presentation of this case includes bibliographic review of the subject, presentation of a clinical case and description of the importance of stomatologic handling of these patients. Knowledge and understanding of the disease as well as treatment sequels are paramount.


REFERENCES

  1. Perrault I, Rozet JM, Greber S et al. Leber congenital amaurosis. Molec Genet Metab. 1999; 68: 200-208.

  2. Heckenlively JR, Forman SG, Parelhoff ES. Retinal dystrophy and macular coloboma. Documenta Ophtalmologica. 1988; 68: 257-271.

  3. Leber T. Uber retinitis pigmentosa and angeborene amaurose. Grafes Arch Klin Exp Ophthalmology. 1869; 15: 1-25.

  4. Schuil J, Meire FM, Delleman JW. Mental retardation in amaurosis congenital of Leber. Neuropediatrics. 1998; 29: 294-297.

  5. Alstrom CH, Olso OA. Heredoretinopathia congenitalis monohybrida recessiva autosomalis. Heredities. 1957; 43: 1-177.

  6. Casteels I, Spileers W, Demaerel P et al. Leber congenital amaurosis-differential diagnosis, ophthalmologic and neuroradiological report of 18 patients. Neuropediatrics. 1996; 27: 198-193.

  7. Foxman SG, Heckenlively JR, Bateman BJ, Wirstschaffer JD. Classification of congenital and early-onset retinitis pigmentosa. Arch Ophtalmo. 1985; 103: 1502-1507.

  8. Kaplan J, Bonneau D, Frézal J et al. Clinical and genetic heterogenetity in retinitis pigmentosa. Arch Ophthalmol. 1990; 85: 635-642.

  9. Harris EW. Leber,s congenital amaurosis and RPE65. Int Ophthalmol Clin. 2001; 41: 73-82.

  10. Leroy BP, Dharmaraj S. Leber congenital amaurosis. Orphanet Encyclopedia. 2003.

  11. Franceschetti A, Dieterlé P. Importance diagnostique et prognostique de l,electrorétinogramme (ERG) dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie. Confin Neurol. 1954; 14: 184-186.




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C?MO CITAR (Vancouver)

Rev Odont Mex. 2014;18