Diagnóstico de un caso de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X mediante electrorretinografía y secuenciación del gen CACNA1F
Tài liệu tham khảo
Zeitz, 2015, Congenital stationary night blindness: An analysis and update of genotype-phenotype correlations and pathogenic mechanisms, Prog Retin Eye Res., 45, 58, 10.1016/j.preteyeres.2014.09.001
William, 2019, Macular sensitivity in patients with congenital stationary night-blindness, Br J Ophthalmol., 103, 1507, 10.1136/bjophthalmol-2018-313072
Michalakis, 2014, Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2, Hum Mol Genet., 23, 1538, 10.1093/hmg/ddt541
Fuente García, 2018, La utilidad diagnóstica del electrorretinograma negativo, Arch Soc Esp Oftalmol., 93, 126, 10.1016/j.oftal.2017.10.006
Miyake, 1986, Congenital stationary night blindness with negative electroretinogram: A new classification, Arch Ophthalmol., 104, 1013, 10.1001/archopht.1986.01050190071042
Bech-Hansen, 1998, Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness, Nat Genet., 19, 264, 10.1038/947
Bijveld, 2013, Assessment of night vision problems in patients with congenital stationary night blindness, PLoS One., 8, e62927, 10.1371/journal.pone.0062927
Hauke, 2013, A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype, PLoS One., 8, e76414, 10.1371/journal.pone.0076414