Abstract

MENDOZA ALBORNOZ, Sandra Micaela; PAZ GONZALES, Melissa Yohanny  and  CESPEDES OPORTO, Víctor Hugo.   Retinal Dystrophy Family. Report of two cases. Gac Med Bol [online]. 2013, vol.36, n.1, pp.42-44. ISSN 1012-2966.

The cone dystrophy is a group of hereditary retinal diseases in a single gene that follow Mendelian inheritance patterns are characterized by low visual acuity macula, with little or no repercussion in the peripheral retina and should be distinguished from other pathologies such as degenerative or toxic. It is very rare to find this involvement in the consultation, especially two family members ages 11 and 13 years respectively, presented with low visual acuity with long evolution, no personal or important pathological , that is why we see presenting appropriate clinical cases. We performed a complete ophthalmologic examination with in Cochabamba, including Elec-troretinogram was not included. According to the characteristics of clinical low vision, night blindness and photophobia, and previous tests, fundus, visual field, color test FM 100, which were found altered and will reach a presumptive diagnosis of Duchenne presence of dominant cones, with poor visual prognosis, as there currently an effective treatment to prevent disease progression, and in these cases it is recommended visual aids and magnifying glasses.

Keywords : retinal dystrophies; vision disorders; photophobia.

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