Retinal disorders

Gene: PTBP1

Red List (low evidence)

Comment on list classification: While there are several individuals reported with monoallelic PTBP1 variants with an ocular phenotype as part of a syndromic presentation, the symptoms do not fit into the scope of the Retinal disorders panel. Hence, PTBP1 should be rated Red for Retinal disorders.

Created: 12 Nov 2025, 2:46 p.m. | Last Modified: 12 Nov 2025, 2:46 p.m.

Panel Version: 8.64

PMID: 40965981 Masson et al., 2025
27 individuals with heterozygous variants in PTBP1 diagnosed with syndromic neurodevelopmental disorder and variable skeletal dysplasia with disproportionate short-limbed short stature. 12/27 individuals noted to have a variable 'ophthalmological' phenotype: microphthalmos (1), myopia (6), strabismus (1), glaucoma (4), papilledema (1), astigmatism (4), cataract (1), septo-optic dysplasia (1), nystagmus (1), amblyopia (1).

This gene is not yet associated with a phenotype in OMIM (accessed 12th Nov 2025).

Created: 12 Nov 2025, 2:44 p.m. | Last Modified: 12 Nov 2025, 2:46 p.m.

Panel Version: 8.64

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

Publications

• 40965981