Optic Nerve Aplasia

Abstract

Objective:Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA.Methods:Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded.Results:Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging.Conclusion:ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

Genetic Analysis by NGS and MLPA in Chinese Aniridia Patients

“…BCOR gene mutations have been identi ed in patients with microphthalmia syndrome or oculofaciocardiodental syndrome, which have phenotypic overlap in eyes but with different X-linked inherited pattern (Hilton et al, 2009;Ng et al, 2004). Here, our patient carrying BCOR c.4262G > A presented with congenital aniridia and monocular microcornea, had phenotypic overlap with the patient carrying BCOR c.4870C > T reported in a previous study, who had sclerocornea and "bull's eye" maculopathy in the right eye, aniridia in the left eye, and microcorneas, absent optic nerves and retinal vessels, foveal hypoplasia in both eyes, as well as a series of systemic diseases (Saffren et al, 2022). Biesecker LG et al found that the knock-down of the zebra sh ortholog of BCOR caused developmental perturbations of the eye and other organs consistent with the symptoms of human, con rming that BCOR could interact with transcriptional partners other than BCL-6 and is a key transcriptional regulator during early embryogenesis (Ng et al, 2004).…”

Oxidative Stress: A Suitable Therapeutic Target for Optic Nerve Diseases?

“…Optic nerve congenital anomalies also constitute a subgroup of optic neuropathies and include, for example, optic nerve hypoplasia and optic disc colobomas [552,553], the latter with a reported prevalence in children of ~8.9 in 100,000 [554]. Visual impairment in this large group of disorders may appear isolated or as part of a systemic malformation syndrome [555].…”

Oxidative Stress: A Suitable Therapeutic Target for Optic Nerve Diseases?

“…Optic nerve congenital anomalies also constitute a subgroup of optic neuropathies and include for example optic nerve hypoplasia and optic disc colobomas [549,550], this latter with a reported prevalence in children of ~8.9 in 100,000 [551]. Visual impairment in this large group of disorders may appear isolated or as part of a systemic malformation syndrome [552].…”