Choroidoretinal Degeneration

X-linked retinitis pigmentosa.

“…Multiple small white retinal bodies were seen in members of P336 (IV/3, V/i, and V/7) giving the retina a distinctive sheen, but this feature was unique to this family in the present series, and was not even common to all affected women in the same family. These white bodies were very similar to those described by Falls and Cotterman (1948).…”

“…The only feature unique to one family was the white bodies seen in three members of P336 (IV/3, V/i, and V/7), a feature not found in other heterozygous women of this family. The presence of these white bodies may be X-linked retinitis pigmentosa I97 significant in view of previous reports of this finding (Diem, 1914;Falls and Cotterman, 1948), and may indicate different genetic influences in this family as compared with others.…”

“…Only three males in families with X-linked retinitis pigmentosa have been described with severe choroidal atrophy (Sorsby and Savory, I 956; Fran §ois, I962) and affected male relatives had typical retinitis pigmentosa. The reported atrophy in other families (Falls and Cotterman, 1948;Hoare, I965) was localized and, in most, the easy visualization of the choroidal blood vessels could be ascribed to the combination of myopia with thin choroidal pigment in eyes with blue irides. It would seem that choroidal atrophy is not prominent or consistent in affected males in these families and is seen only in far advanced disease.…”

“…In subsequent years, abnormal fundus reflexes were reported in different genetic forms of retinitis pigmentosa and were referred to as "tapetal reflexes" (Mann, 1937). Falls and Cotterman (1948) found that this abnormal tapetal reflex was the most common expression of the heterozygous state in their family, and others have emphasized the importance of this ophthalmoscopic sign (Weiner and Falls,I955;Roberts,I959; Francois, I962; Ricci,Ammann,and Franceschetti,I963;Goodman,Ripps,and Siegel, I965; Hussels, I967; Warburg and Simonsen, I968; Krill, I969). Ricci and others (I963) reported that this reflex could not be seen after exposure of the fundus to light, and reappeared after a period of darkness.…”

“…There was renewed interest in this condition after the report of Falls and Cotterman (1948), in which a family with twelve heterozygous females was described. All these heterozygotes had a prominent "tapetal reflex", and peripheral pigment epithelial thinning was seen in seven.…”