Leber Congenital Amaurosis 15 and Retinitis Pigmentosa 14 (TULP1)

Pathogenic variants in the gene TULP1 cause two autosomal recessive retinal disorders called retinitis pigmentosa 14 and Leber congenital amaurosis 15. Retinitis pigmentosa 14 typically begins with the onset of night blindness in childhood and progresses to tunnel vision and blindness in adulthood. Leber congenital amaurosis 15 is characterized by nystagmus and loss of vision that begins at birth or in the first months of life. Individuals develop a profound loss of vision at an early age. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):