[Is it possible to give genetic counseling in pigmentary retinopathy?].
The author tries to change the opinion still prevailing today according to which any pigmentary retinopathy may represent a handicap to the descendants. Pigmentary retinopathy may have several etiologies--hereditary, sex-linked, dominant autosomal or recessive autosomal, metabolic, within the framework of various mucopolysaccharidoses, secondary post inflammatory or post traumatic. Hereditary transmission is discussed recalling for isolated cases the empirical calculus of H. Maumenee on 1000 Swiss families. Genetic advice, the same as other medical prognosis must form integral part of clinical medical practice. Genetic advice must be based on perfect knowledge of the patient and his family, yet the final decision remains with the family.
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D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
Se poate da un sfat genetic in retinopatia pigmentară?