Unilateral optic nerve aplasia associated with rudimental retinal vasculature
Roberto Caputo1, Andrea Sodi, Ugo Menchini
1Pediatric Ophthalmology Unit, Meyer Children's Hospital, Viale Pieraccini, 24, 50100, Florence, Italy. r.caputo@meyer.it
International Ophthalmology
|August 21, 2008
Abstract:
Optic nerve aplasia (ONA) is a rare congenital malformation characterized by absence of optic disk, optic nerve, retinal ganglion cells, and central retina vessels. It is frequently associated with other ocular and central nervous system anomalies. In this paper, we describe a case of ONA associated with microphthalmos and a rudimental retinal vasculature in an otherwise healthy infant.
Related Concept Videos
Anatomy of the Eyeball
The eye is a spherical, hollow structure composed of three tissue layers. The outer layer — the fibrous tunic, comprises the sclera — a white structure — and the cornea, which is transparent. The sclera encompasses some of the ocular surface, most of which is not visible. However, the 'white of the eye' is distinctively visible in humans compared to other species. The cornea, a clear covering at the front of the eye, enables light penetration. The eye's middle layer, the vascular tunic,...
Photoreceptors and Visual Pathways
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...
The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...


