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Autosomal recessive retinitis pigmentosa and Coats disease: a presumed familial incidence. 1976

J D Lanier, and J A McCrary, and J Justice

Three of four siblings of normal parents had a combination of Coats disease and retinitis pigmentosa bilaterally. Our report of their respective cases is, to our knowledge, the first report of a familial incidence of the combination of the two diseases in an individual and supports the implication that Coats disease may be a genetic abnormality. The pathological process was essentially the same in all three patients, although it occurred differently in one of the three siblings and gave rise to an altered functional and clinical picture. The similarities may indicate that the convenient categories of "tapeto-retinal degenerations" are clinical variations of the same genetic abnormality.

UI MeSH Term Description Entries
D008297 Male Males
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
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D012163 Retinal Detachment Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12). Retinal Pigment Epithelial Detachment,Detachment, Retinal,Detachments, Retinal,Retinal Detachments
D001766 Blindness The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE. Amaurosis,Bilateral Blindness,Blindness, Bilateral,Blindness, Legal,Blindness, Monocular,Blindness, Unilateral,Sudden Visual Loss,Unilateral Blindness,Blindness, Acquired,Blindness, Complete,Blindness, Hysterical,Blindness, Transient,Acquired Blindness,Amauroses,Bilateral Blindnesses,Complete Blindness,Hysterical Blindness,Legal Blindness,Monocular Blindness,Sudden Visual Losses,Transient Blindness,Visual Loss, Sudden
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
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
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition

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