KIZ, kizuna centrosomal protein, 55857

N. diseases: 35; N. variants: 7
Disease: Unspecified visual loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.010 GeneticVariation phenotype BEFREE <b>Introduction</b>: Mutations in Kizuna (<i>KIZ)</i>, a gene involved in ciliary function, have been previously associated with rod-cone dystrophy with relative macular sparing and a number of other systemic abnormalities.<b>Purpose</b>: We present a patient with a phenotype dominated by retinal dystrophy and macular cysts as a result of a homozygous nonsense mutation in <i>KIZ.</i><b>Methods</b>: A 32-year-old female of Ashkenazi Jewish ancestry presented with progressive central vision loss and peripheral visual field loss following decades of night-blindness. 31556760 2019