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Revista Mexicana de Oftalmología

Anales de la Sociedad Mexicana de Oftalmología y Archivos de la Asociación Para Evitar la Ceguera en México
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2008, Number 1

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Rev Mex Oftalmol 2008; 82 (1)

Distrofia cono-bastón. Reporte de un caso

Soto-Ortiz K, Torres-Soriano M
Full text How to cite this article

Language: Spanish
References: 6
Page: 46-49
PDF size: 185.81 Kb.


Key words:

Cone-rod dystrophy, retinal dystrophy, photoreceptor.

ABSTRACT

Cone-rod dystrophy belongs to the inherited retinal dystrophies, having different ways of transmission; it has a prevalence of 1 in 40000, ten times less than retinitis pigmentosa. Main symptoms include photophobia, decreased central visual acuity, hemeralopia, dyschromatopsia and, in advanced stages, loss of peripheral vision and night blindness. We present the case of a patient with the disease and review clinical findings and studies practiced, along with differential diagnosis.


REFERENCES

  1. Jiménez-Sierra JM, Ángel-Muñoz EU, Murillo-López S. Enfermedades hereditarias de retina, coroides y vítreo. En: Quieroz- Mercado H. Retina Diagnóstico y Tratamiento, 2º ed, Mc Graw Hill, México 2004: 475-501.

  2. Michaelides M, Aligianis IA, Ainsworth JR y cols. Progressive cone dystrophy associated with mutation in CNGB3. Invest Ophthalmol Vis Sci 2004; 45:1975-1981.

  3. Michaelides M, Holder GE, Hunt DM y cols. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. Br J Ophthalmol 2005; 89:198-206.

  4. Demirci FYK, Gupta N, Radak AL y cols. Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. Am J Ophthal 2005; 139:386-388.

  5. Hamel C. Cone-rod dystrophies. Orphanet Enciclopedia. Jan 2005.

  6. Birch DG, Anderson Jl, Fish GE. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy. Ophthalmology 1999; 106:258-268.




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Rev Mex Oftalmol. 2008;82