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- Title
Distrofia Retiniana Familiar. Reporte de dos casos.
- Authors
Llanos Albornoz, Sandra Micaela Mendoza; Paz Gonzales, Melissa Yohanny; Céspedes Oporto, Víctor Hugo
- Abstract
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 Electroretinogram 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.
- Subjects
GENETICS of retinal degeneration; VISUAL acuity; ELECTRORETINOGRAPHY; LOW vision; NIGHT blindness; PREVENTION of disease progression
- Publication
Gaceta Médica Boliviana, 2013, Vol 36, Issue 1, p42
- ISSN
1012-2966
- Publication type
Article