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Retina
The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.
Gyrate Atrophy
Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.
Year introduced: 1990
Retinal Cone Photoreceptor Cells
Photosensitive afferent neurons located primarily within the FOVEA CENTRALIS of the MACULA LUTEA. There are three major types of cone cells (red, blue, and green) whose photopigments have different spectral sensitivity curves. Retinal cone cells operate in daylight vision (at photopic intensities) providing color recognition and central visual acuity.
Year introduced: 2009 (1994)
Retinal Rod Photoreceptor Cells
Photosensitive afferent neurons located in the peripheral retina, with their density increases radially away from the FOVEA CENTRALIS. Being much more sensitive to light than the RETINAL CONE CELLS, the rod cells are responsible for twilight vision (at scotopic intensities) as well as peripheral vision, but provide no color discrimination.
POU6F2 protein, human [Supplementary Concept]
RefSeq NM_007252
Date introduced: May 8, 1996
Nrl protein, mouse [Supplementary Concept]
RefSeq NM_008736
Date introduced: January 17, 1994
Leber Congenital Amaurosis
A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
Year introduced: 2010
Retinal Neoplasms
Tumors or cancer of the RETINA.
Year introduced: 1998
Kearns-Sayre Syndrome
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
Year introduced: 2010 (1983)
Coloboma
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
Year introduced: 1973(1965)
fzr protein, Drosophila [Supplementary Concept]
RefSeq NM_080113
Date introduced: October 24, 2013
Cavernous Malformations of CNS and Retina [Supplementary Concept]
Date introduced: November 5, 2012
Retinal Nonattachment, Nonsyndromic Congenital [Supplementary Concept]
Fleck Retina, Familial Benign [Supplementary Concept]
Lattice Degeneration of Retina Leading to Retinal Detachment [Supplementary Concept]
Fleck Retina of Kandori [Supplementary Concept]
Fuchs atrophia gyrata chorioideae et retinae [Supplementary Concept]
Date introduced: August 25, 2010
Wyburn Mason's syndrome [Supplementary Concept]
Congenital arteriovenous fistulas of the retina and parts of the brain. Some affected individuals have no symptoms, others may experience headaches, visual defects, seizures, or partial paralysis.
Oliver-McFarlane syndrome [Supplementary Concept]
Very long eyelashes and eyebrows, mental retardation, and pigmentary degeneration of the retina; Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina
Doyne honeycomb retinal dystrophy [Supplementary Concept]
Small round white spots (drusen) that appear at the posterior pole of the eye, including the areas of the MACULA LUTEA and OPTIC DISK, in early adulthood and progress to form a mosaic or honeycomb pattern coincident with deterioration of vision. It is caused by mutations in the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) protein. OMIM: 126600