Syndromic IRDs are rare disorders. Many can be classified in two groups, ciliopathies and inborn errors of metabolism. The tissues commonly involved are the central nervous system, ophthalmic extra-retinal tissues, ear, skeleton, kidney and the cardiovascular system. Many causative genes that follow a recessive pattern of inheritance have been reported.
The DBGen Syndromic Retinal Distrophy panel includes the coding regions of 174 genes associated with these pathologies.
12 – 14 weeks