Biomaterial Database

Autosomal dominant retinitis pigmentosa and Coats'-like disease. 1985

A Spallone, and G Carlevaro, and P Ridling

Two patients with retinitis pigmentosa of the dominant type and a Coats'-like syndrome were studied. The aetiology of the Coats'-like syndrome in retinitis pigmentosa is obscure. The principal theories will be reported in this paper. The association between retinitis pigmentosa and Coats'-like disease has been reported many times in a sporadic way (Zamorani, 1956; Morgan and Crawford, 1968). As far as we know this association in more than one member of the same pedigree has been published only in two papers (Schmidt and Faulborn, 1972; Lanier, McCrary and Justice, 1976). Below we describe the case of two brothers suffering from retinitis pigmentosa of the dominant type and Coats'-like syndrome. To our knowledge this is the first report in English of the occurrence in a family of association of retinitis pigmentosa of the dominant type and Coats'-like syndrome which occurred in two brothers of non consanguineous parents.

UI	MeSH Term	Description	Entries
D008269	Macular Edema	Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)	Central Retinal Edema, Cystoid,Cystoid Macular Edema,Macular Edema, Cystoid,Cystoid Macular Dystrophy,Cystoid Macular Edema, Postoperative,Irvine-Gass Syndrome,Macular Dystrophy, Dominant Cystoid,Edema, Cystoid Macular,Edema, Macular,Irvine Gass Syndrome,Syndrome, Irvine-Gass
D008297	Male		Males
D010211	Papilledema	Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)	Choked Disk,Edema of the Optic Disc,Edema of the Optic Disk,Optic Disc Edema,Optic Disk Edema,Optic Papilla Edema,Papillitis, Optic,Decreased Intraocular Pressure-Associated Papilledema,Increased Intracranial Pressure-Associated Papilledema,Optic Nerve Papillitis,Papilledema Associated with Decreased Intraocular Pressure,Papilledema Associated with Increased Intracranial Pressure,Papillitis,Retinal Edema,Choked Disks,Decreased Intraocular Pressure Associated Papilledema,Disk, Choked,Edema, Optic Disc,Edema, Optic Disk,Edema, Optic Papilla,Edema, Retinal,Edemas, Optic Disc,Edemas, Optic Disk,Edemas, Retinal,Increased Intracranial Pressure Associated Papilledema,Optic Papillitis,Papillitis, Optic Nerve,Retinal Edemas
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
D002386	Cataract	Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)	Cataract, Membranous,Lens Opacities,Pseudoaphakia,Cataracts,Cataracts, Membranous,Lens Opacity,Membranous Cataract,Membranous Cataracts,Opacities, Lens,Opacity, Lens,Pseudoaphakias
D002869	Chromosome Aberrations	Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.	Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
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
D005799	Genes, Dominant	Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.	Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man