Importance Early diagnosis of retinoblastoma, the most common intraocular cancer, can
save both a child's life and vision. However, anecdotal evidence suggests that many …

Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …

Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital
cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation …

Background Retinoblastoma is the most common intraocular cancer worldwide. There is
some evidence to suggest that major differences exist in treatment outcomes for children …

PURPOSE: To compare postmortem orbital findings in pediatric accidental head injury to
Shaken Baby Syndrome (SBS). DESIGN: Retrospective study. METHODS: setting …

BACKGROUND Optic pathway gliomas (OPGs) are commonly noted in pediatric oncology
services. Radiotherapy is effective at controlling tumors, but has many undesirable late …

Background: Primary infantile glaucoma presents rarely, but can be responsible for
significant visual morbidity. There is little information on the clinical features and visual …

Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised
by structural defects of the anterior chamber of the eye and a range of systemic features …

Purpose Ocular anterior segment disorders (ASDs) are clinically and genetically
heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate …

Purpose To report the relative frequencies of childhood and early onset glaucoma subtypes
and their genetic findings in a large single cohort. Design Retrospective clinical and …