Albinism or congenital nystagmus

Gene: PAX6

Green List (high evidence)

Green List (high evidence)

Initial gene list and info collated by Jonathan Callaway (Wessex Regional Genetics Laboratory) February 2019. Suggested intial gene rating: Green; Comments provided: Comments from OMIM: Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia, microphthalmia, albinism, or achromatopsia. All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). In affected members of a family with foveal hypoplasia, congenital nystagmus, and anterior segment anomalies (mainly iris hypoplasia or atypical coloboma), Vincent et al. (2004) identified a heterozygous splice mutation in the PAX6 gene. Hanson et al. (1999) described a family in which the mother and a son and daughter had foveal hypoplasia, nystagmus and cataracts; a missense change in PAX6 was identified proband also had nystagmus. Comments from HGMDpro: 571 variants listed - there is a well established gene association with aniridia and the majority of variants have this as the reported phenotype. 10 variants have nystagmus as the reported phenotype; 2 of these variants also have foveal hypoplasia listed.

Created: 13 Feb 2019, 11:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Coloboma of optic nerve 120430 AD; ?Coloboma, ocular 120200 AD; ?Morning glory disc anomaly 120430 AD; Aniridia 106210 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD