Hereditary Choroidoretinal Degeneration

Choroideremia and gyrate atrophy of the choroid and retina

“…Some authors found an annular scotoma (BULLAR, 1898;ALEXANDER, 1910;P~LLOT, In the majority of cases in which an ERG examination was mentioned, the choroideremia had reached an advanced stage. In none of these cases was the ERG recordable (BouNDS & JOHNSTON (1955), in two patients; FRANCESCHETTI ~; DIETERLE (1957), in one patient; STRAUB (1961), in three patients; JACOBSON @~; STEPHENS (1962), in one patient; FRANCES-CHETTI, FRANQOIS & BABEL (1963), in three patients).…”

“…In one patient with a far advanced stage of choroideremia, only selective amplification of the flicker ERG made it possible to obtain a rudimentary photopic response. JACOBSON • STEPHENS (1962) saw that in young patients the ERG became negative with an enlarged a-wave, probably as a result of the disappearance of a compensatory, chiefly positive, scotopic component (b-wave).…”

Genetic Counselling in X-Linked Eye Diseases

“…Choroidal sclerosis may show an autosomal transmission, sometimes dominant, sometimes recessive. A few pedigrees indicate however a sex-linked heredity (Thompson 1901, Wilmer 1934, Sorsby and Savory 1956, Francois 1958, Stankovic 1958, Jacobson and Stephens 1962.…”

Histologischer Beitrag zur Chorioideremie

“…Während J aeger und G rützner [5] bei Knaben noch ein normales ERG registrieren konnten, fanden dies an dere Untersucher bereits im Alter von 5,6,8 bzw. 9 Jahren deutlich patho logisch, und zwar zunächst in seinem skotopischen Anteil reduziert [4,11,14]. Im fortgeschrittenen Stadium ist das ERG stets ausgelöscht.…”