"Coloboma of optic nerve"

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defects, and growth delays. We found two sequence variants in SALL4

abnormalities, persistent fetal retinal vessels, exophthalmos, coloboma, and optic nerve atrophy. These abnormalities are rare and occur in 7% to 10% of patients.[58]A retrospective review identified midline rhabdomyomatous mesenchymal hamartomas and chin hamartomas in a small number of children with PHACE or LUMBAR syndrome.[59] These are not currently included as minor criteria.Diagnosis of PHACE syndrome

eyes of 66 (1.1%, 95% CIs 0.00834 to 0.01361) patients. The prevalence of each anomaly in the descending order was peripapillary myelinated nerve fibre (0.28%), epipapillary glial tissue on the optic disc (0.28%), peripapillary vascular loops (0.16%), tilted disc (0.09%), optic disc coloboma (0.08%), optic nerve hypoplasia (0.04%), optic disc pit (0.04%), optic disc pigmentation (0.03%), optic nerve

Coloboma of optic nerve with overlay of peripapillary retina. An eye that had the clinical appearance of a tumour of the nerve head was found on histological examination to have a congenitally large scleral canal with secondary buckling of the overlying retina.

Coloboma of Optic Nerve (? Traumatic)

* PAX6 * Gillespie syndrome * Coloboma of optic nerve

* PAX6 * Gillespie syndrome * Coloboma of optic nerve

* PAX6 * Gillespie syndrome * Coloboma of optic nerve

Retina * Megalopapilla Other * Buphthalmos * Coloboma (Coloboma of optic nerve) * Hydrophthalmos