Biomaterial Database

Retinal vascular and optic nerve abnormalities in albinism. 1986

M J Spedick, and G R Beauchamp

Albinism is a condition in which the pigment melanin may not be synthesized from tyrosine. The fundus photographs of 24 eyes of 12 patients with the clinical diagnosis of either ocular or oculocutaneous albinism were reviewed. We observed two findings that to our knowledge have not been reported previously. Eighteen eyes of ten patients had prominent retinal vessels coursing through the putative macular area instead of arching around it. Large noncilioretinal vessels extended from the disc to the dysplastic "foveal zone" in eight eyes of five patients. Typical optic nerve hypoplasia (ONH) was seen in six eyes of four patients; features suggestive of ONH were present in an additional ten eyes of six patients. The cross-over (sharing) of clinical features between albinism and aniridia is striking and raises questions about pathophysiologic mechanisms.

UI	MeSH Term	Description	Entries
D009900	Optic Nerve	The 2nd cranial nerve which conveys visual information from the RETINA to the brain. The nerve carries the axons of the RETINAL GANGLION CELLS which sort at the OPTIC CHIASM and continue via the OPTIC TRACTS to the brain. The largest projection is to the lateral geniculate nuclei; other targets include the SUPERIOR COLLICULI and the SUPRACHIASMATIC NUCLEI. Though known as the second cranial nerve, it is considered part of the CENTRAL NERVOUS SYSTEM.	Cranial Nerve II,Second Cranial Nerve,Nervus Opticus,Cranial Nerve, Second,Cranial Nerves, Second,Nerve, Optic,Nerve, Second Cranial,Nerves, Optic,Nerves, Second Cranial,Optic Nerves,Second Cranial Nerves
D012164	Retinal Diseases	Diseases involving the RETINA.	Disease, Retinal,Diseases, Retinal,Retinal Disease
D005654	Fundus Oculi	The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)	Fundus of the Eye,Ocular Fundus,Fundus, Ocular
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000417	Albinism	General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
D012171	Retinal Vessels	The blood vessels which supply and drain the RETINA.	Pecten Oculi,Retinal Vasculature,Retinal Blood Vessels,Retinal Blood Vessel,Retinal Vasculatures,Retinal Vessel,Vasculature, Retinal,Vessel, Retinal,Vessel, Retinal Blood
D014785	Vision, Ocular	The process in which light signals are transformed by the PHOTORECEPTOR CELLS into electrical signals which can then be transmitted to the brain.	Vision,Light Signal Transduction, Visual,Ocular Vision,Visual Light Signal Transduction,Visual Phototransduction,Visual Transduction,Phototransduction, Visual,Transduction, Visual