Biomaterial Database

Clinical study of a large family with autosomal dominant progressive cone degeneration. 1996

K W Small, and K Gehrs

Macula Center, Jules Stein Eye Institute, University of California, Los Angeles 90095, USA.

OBJECTIVE Autosomal dominant cone degeneration is an uncommon disorder characterized by progressive photophobia, hemeralopia, decreased central vision, and dyschromatopsia. To better understand the variable expressivity of autosomal dominant cone degeneration, we studied a single, large family. METHODS We performed comprehensive ophthalmic examinations, full-field electroretinography, foveal electroretinography, and color vision studies on 73 family members. RESULTS Of the 73 family members, 34 were affected. Symptoms generally began in the first decade of life and slowly progressed into midlife. Ophthalmoscopic findings consisted primarily of macular granularity or central macular atrophy. The photopic full-field electroretinogram was important in establishing the diagnosis, although the results of the electroretinographic measurements varied across individuals. Either the foveal electroretinogram amplitudes were abnormally low or the foveal/parafoveal ratio was abnormal in all affected subjects. CONCLUSIONS No single test or finding was completely sensitive or specific for accurate diagnosis of autosomal dominant cone degeneration. Especially in the more mildly affected subjects, a constellation of symptoms, findings, and test results were used to diagnose autosomal dominant cone degeneration accurately.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
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
D012162	Retinal Degeneration	A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)	Degeneration, Retinal,Degenerations, Retinal,Retinal Degenerations
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003117	Color Vision Defects	Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.	Achromatopsia,Color Blindness,Monochromatopsia,Color Blindness, Acquired,Color Blindness, Blue,Color Blindness, Green,Color Blindness, Inherited,Color Blindness, Red,Color Blindness, Red-Green,Color Vision Deficiency,Deutan Defect,Protan Defect,Tritan Defect,Achromatopsias,Acquired Color Blindness,Blindness, Color,Blue Color Blindness,Color Blindness, Red Green,Color Vision Defect,Color Vision Deficiencies,Defect, Color Vision,Defect, Deutan,Defects, Color Vision,Deficiencies, Color Vision,Deficiency, Color Vision,Green Color Blindness,Inherited Color Blindness,Red Color Blindness,Red-Green Color Blindness,Vision Defect, Color,Vision Defects, Color,Vision Deficiencies, Color,Vision Deficiency, Color
D004596	Electroretinography	Recording of electric potentials in the retina after stimulation by light.	Electroretinographies
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

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