A principal característica desses distúrbios é a perda progressiva da visão central, distúrbios da visão de cores e distúrbios da luz. Existem mais de 30 tipos de distrofias cone-bastonete, diferenciadas por sua causa genética e padrão de herança que pode ser autossômica recessiva, autossômica dominante e ligada ao X. Esses distúrbios podem ocorrer isoladamente, sem quaisquer outros sinais e sintomas, ou podem estar associados a uma síndrome que afeta vários órgãos.
A utilidade clínica deste painel é:
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Boulanger-Scemama, E., El Shamieh, S., Démontant, V., Condroyer, C., Antonio, A., Michiels, C., Boyard, F., Saraiva, J. P., Letexier, M., Souied, E., Mohand-Saïd, S., Sahel, J. A., Zeitz, C., & Audo, I. (2015). Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet journal of rare diseases, 10, 85. https://doi.org/10.1186/s13023-015-0300-3
Tsang, S. H., & Sharma, T. (2018). Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR). Advances in experimental medicine and biology, 1085, 53–60. https://doi.org/10.1007/978-3-319-95046-4_12
