Table 2. [Other Autosomal Dominant Ocular Phenotypes Caused by PAX6 Pathogenic Variants]. - GeneReviews®

Ocular Phenotype	Manifestations
Keratitis	Limbal stem cell deficiency w/vascularization & opacification of the cornea ± foveal hypoplasia
Microcornea	Small corneas w/diameters <10 mm
Peters anomaly ¹	Central corneal opacity caused by iridocorneal adhesions or lenticulocorneal adhesions; glaucoma in 50%
Ectopia pupillae	Pupil displaced from center of iris
Juvenile cataracts	Early-onset lens opacities
Isolated foveal hypoplasia	Normal iris, reduced foveal reflex, reduced macular pigmentation, retinal vessels crossing the usually avascular foveal zone
Optic nerve aplasia/hypoplasia or coloboma	Small, absent, or malformed optic nerve heads
Microphthalmia, cataract, & nystagmus	Very small eye, early lens opacities; glaucoma common
Foveal hypoplasia/macular coloboma w/neurodevelopmental anomalies	Absent or highly malformed central chorioretinal area, variable neurologic abnormalities (e.g., cerebellar syndrome, cortical atrophy, low IQ, absent pineal gland)
Nystagmus, foveal hypoplasia, & presenile cataract ²

Ocular Phenotype

Manifestations

Keratitis

Limbal stem cell deficiency w/vascularization & opacification of the cornea ± foveal hypoplasia

Microcornea

Small corneas w/diameters <10 mm

Peters anomaly ¹

Central corneal opacity caused by iridocorneal adhesions or lenticulocorneal adhesions; glaucoma in 50%

Ectopia pupillae

Pupil displaced from center of iris

Juvenile cataracts

Early-onset lens opacities

Isolated foveal hypoplasia

Normal iris, reduced foveal reflex, reduced macular pigmentation, retinal vessels crossing the usually avascular foveal zone

Optic nerve aplasia/hypoplasia or coloboma

Small, absent, or malformed optic nerve heads

Microphthalmia, cataract, & nystagmus

Very small eye, early lens opacities; glaucoma common

Foveal hypoplasia/macular coloboma w/neurodevelopmental anomalies

Absent or highly malformed central chorioretinal area, variable neurologic abnormalities (e.g., cerebellar syndrome, cortical atrophy, low IQ, absent pineal gland)

Nystagmus, foveal hypoplasia, & presenile cataract ²

From: PAX6-Related Aniridia

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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