Karl De Geer

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

PAX6 encodes a dosage-sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality. Her...