Heredity in ophthalmology / Jules François.

  • François, J. (Jules)
Date:
1961
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Heredity in ophthalmology / Jules François. Source: Wellcome Collection.

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    692 GENERAL DISEASES WITH OCULAR MANIFESTATIONS Fig. 622. Varicosities on the thigh. Fig. 623. Papillary region of the left eye. (Personal (Personal observation.) observation.) and the vulva; vascular telangiectases; marked hyperreflexia; and a thyrotoxic goiter. III-9 is lame. He exhibits varices and phlebectases on the legs and the right arm, pigmented and nonpigmented nevi café-au-lait markings over the left pectoral region and the right shoulder-blade, and ruby-colored spots on the thorax and the back, as well as telangiectases. IV-1 displays an orthopedic malformation; IV-4 has no uvula; IV-5 died at 4 years of age after having suffered from dolichocolon and paralysis of the limbs; IV-6, IV-7, and IV-8 show numerous pigmented nevi; IV-12 died of convulsions. Bardet-Biedl Syndrome Bardet-Biedl syndrome is often called the Laurence and Moon—Bardet- Biedl syndrome (1866, 1920, and 1922, respectively). Yet, as Panse (1938) and Franceschetti and Klein (1948) have emphasized, the family examined by Laur¬ ence and Moon does not present the typical Bardet-Biedl syndrome; neither polydactylia nor obesity was present. On the other hand, there was marked paraplegia which resembled the hereditary ataxias, with hypogenitalism and choroidal sclerosis (Kapuscinski, 1934). The Bardet-Biedl syndrome is a hereditary degenerative cerebroretinal malady, based anatomically upon abiotrophy of the diencephalohypophyseal region and of the retinal neuroepithelium. It makes its appearance in childhood, most frequently between 10 and 15 years of age, and is characterized by five cardinal symptoms: tapetoretinal degeneration, generally of the pigmentary retinopathy type; obesity of Fröhlich's type (see Fig. 71) ; genital dystrophy with