Albinism or congenital nystagmus

Gene: TULP1

I don't know

Limited evidence for an association with nystagmus. Comments from OMIM: Den Hollander et al. 2007 (PMID 18055821) described 5 members of a Surinamese family with retinitis pigmentosa 14 who were compound heterozygous for mutations in the TULP1 gene. All 5 had a severe early-onset retinal dystrophy with a history of nystagmus, low visual acuity, and night blindness since infancy. Comments from HGMDpro: 75 variants listed, including numerous LOF variants. The majority have Leber congenital amaurosis or retinitis pigmentosa as the reported phenotype. Only 1 variant (frameshift) with a phenotype of nystagmus (Widgren et al 2016; PMID 26448634); no reference to albinism/hypopigmentation/foveal hypoplasia. Nystagmus is a common trait in Leber congenital amaurosis, although advice from our local clinical expert in ophthalmology suggests that there is limited evidence to suggest TULP1 is associated with isolated nystagmus.

Created: 20 Mar 2019, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 15 613843 AR; Retinitis pigmentosa 14 600132 AR