Biomaterial Database

Familial congenital grouped pigmentation of the retina. 1991

V W Renardel de Lavalette, and J R Cruysberg, and A F Deutman

Institute of Ophthalmology, University of Nijmegen, The Netherlands.

Congenital grouped pigmentation of the retina is an uncommon disorder characterized by a grouping together of round to oval spots of pigment in one or more quadrants of the retina, except for the macula. Detection is usually coincidental during routine ocular examination. We examined a mother and daughter with bilateral grouped pigmentation of the retina. Visual acuity, visual fields, and results of electrophysiologic examination were normal. Autosomal dominant inheritance with variable expression was likely.

UI	MeSH Term	Description	Entries
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D005451	Fluorescein Angiography	Visualization of a vascular system after intravenous injection of a fluorescein solution. The images may be photographed or televised. It is used especially in studying the retinal and uveal vasculature.	Fluorescence Angiography,Fundus Fluorescence Photography,Angiography, Fluorescein,Angiography, Fluorescence,Fluorescence Photography, Fundus,Photography, Fundus Fluorescence
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
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D012174	Retinitis Pigmentosa	Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.	Pigmentary Retinopathy,Tapetoretinal Degeneration,Pigmentary Retinopathies,Retinopathies, Pigmentary,Retinopathy, Pigmentary,Tapetoretinal Degenerations
D014792	Visual Acuity	Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast.	Acuities, Visual,Acuity, Visual,Visual Acuities