Neuroocular syndrome (NOC) is a novel syndrome with a wide clinical spectrum marked chiefly by neurodevelopmental and eye abnormalities. It has been reported that mutations in PRR12 cause this syndrome. PRR12 encodes a proline-rich protein nuclear factor suspected to be involved in neural development. Its nuclear expression in fetal brains and in the vision system supports its role in brain and eye development more specifically. Recently, variants in DAGLA with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality have been identified. DAGLA is expressed in neurons and astrocytes throughout the brain, and is required within the developing nervous system for axonal growth and guidance.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD21 Syndromes with eye anomalies as a major feature
H02947 Neuroocular syndrome
