概要 |
Cone-rod synaptic disorder (CRSD) is an autosomal recessive disorder caused by mutations in CABP4. CRSD is characterized by congenital nystagmus, stable low vision, photophobia, and a normal fundus appearance. Recently, It has been reported that mutations in RIMS2 cause a syndromic congenital cone-rod synaptic disease (CRSDS) with neurodevelopmental and pancreatic involvement.
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著者 |
Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI |
著者 |
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Duenas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Beziere A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I |