Cone-rod synaptic disorder

Definition:

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.

References:

[1]. Arif O Khan, et al. CABP4 mutations do not cause congenital stationary night blindness. Ophthalmology. 2014 Mar;121(3):e15. [Content Brief]

[2]. Karin W Littink, et al. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest Ophthalmol Vis Sci. 2009 May;50(5):2344-50. [Content Brief]

[3]. Sabrina Mechaussier, et al. Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. Am J Hum Genet. 2020 Jun 4;106(6):859-871. [Content Brief]

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