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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    THE SYNDROMES 693 arrested development of the genital organs and absence of secondary sex charac¬ ters; polydactylia, with or without syndactylia; and mental deficiency. Other signs may accompany these essential symptoms. These include skeletal anomalies (brachycephalia, microcephalia, or oxycephalia, kyphoscoliosis, genu valgum, flatfeet, etc.), diverse neurologic anomalies, developmental anomalies (anal atresia, urogenital malformation, congenital cardiopathies, etc.), and metabolic disturbances (diabetes insipidus). The operative period of the gene must lie between the first and second month of embryonic life, which would explain both the developmental anomalies and the other assessory signs observed in the syndrome. Tapetoretinal degeneration is, with adiposogenital dystrophy, the most important and also the most constant symptom of the Bardet-Biedl syndrome. It is manifested sometimes as classic pigmentary retinopathy and sometimes as atypical pigmentary retinopathy. Whether it be of the one or the other form, macular degeneration is fairly often present and generally hemeralopia also. The atypical forms are variable. Optic atrophy and attenuation of the vessels may be absent. Sometimes macular degeneration of stippled appearance, as¬ sociated with atrophy of the peripheral portion of the retina with very fine pig¬ mentation, is present. The following have also been recorded: retinitis punctata albescens (François and Bello, 1952), choroideremia or choroidal sclerosis, re¬ tinal degeneration without pigment, chorioretinitis of the pepper-and-salt type (François and Bello, 1952), or even disseminated choroiditis. Tavolara (1949) has observed pigmentary degeneration of the retina affecting one quadrant, and Brand (1950) has noted diffuse pigmentary degeneration accompanied by grayish atrophic areas in the periphery. Vision is always markedly diminished, and the field of vision is narrowed. Cases have been recorded in which pigmentary retinopathy was replaced by other anomalies (equivalents). Thus, descriptions have been given of external ophthalmoplegia (Sussman, 1951), optic atrophy (Pagels, 1929; van Bogaert, 1938; Marmor and Lambert, 1938), high myopia (Molitch, Gladen, and Pigott, 1935), microphthalmia (Cavallacci, 1937; Ciotola, 1938; Warkany and Weavef, 1940), a coloboma of the iris (Ratner, 1927; Biemond, 1934; van Bogaert and Delhaye, 1936), and congenital cochlear deafness (Weiss, 1932; Lurie and Levy, 1944; Burn, 1950). Other ocular anomalies are often associated with pigmentary retinopathy, such as nystagmus and strabismus, both of which are associated with very marked diminution of vision, and posterior cortical cataract, which is often associated with pigmentary degeneration of the retina. More rarely, microphthalmia (Ca¬ vallacci, 1939), anophthalmia (François, 1953), ptosis (Krarup, 1939; Lurie and Levy, 1944), external ophthalmoplegia (Amyot, 1937; Rossano and Valès, 1938), or epicanthus (Friedmann, 1932; van Bogaert and Delhaye, 1936; Warkany, Frauenberger, and Mitchell, 1937; François and Bello, 1952) have been noted. Refraction is highly variable; almost as many myopes as hypermétropes are found, but emmetropes are rare. There are, however, Bardet-Biedl syndromes without pigmentary retinop-