Sex-Linked Ocular Disorders: Trait Expressivity in Males and Carrier Females

Some notes on publications of Professor Arnold Sorsby and on Aland eye disease (Forsius-Eriksson syndrome).

“…In V.4 there was no complaint of photophobia and no preference of dim illumination. In general, both were absent in the patients, in contrast to the experience of Goodman, Ripps, andSiegel (1963, 1965), who found photophobia to be one of the main symptoms in several cases of cone and rod dysfunction.…”

Fluorescein angiography of the hereditary choroidal dystrophies.

“…7a, b) and Case 11 (Fig. 7c, d) This 35-year-old female (case 10) and her 7-year-old son (case 11) were seen as part of a family study of choroideremia which was reported in an earlier paper (Goodman et al, 1965). Neither patient had any visual symptoms, and the vision in each was 20/20 OD and OS.…”

“…The carrier female usually has a picture similar to the earliest stage of the affected male (Goodman et al, 1965). Typically there is pigment mottling, best seen in the mid-periphery.…”

“…Despite the similarity in appearance of carrier female and early affected males visual function tests (visual fields, final thresholds, electroretinogram) are usually normal in the female (Goodman et al, 1965). In addition the fundus signs are stationary and visual function tests remain normal (Franceschetti et al, 1974).…”

Lyonization in ophthalmology

“…Fundus appearance ranges from normal to mild scattered pigmentary spicules to extensive retinal degeneration. A tapetal-like reflex, which is a golden metallic-luster sheen on the retinal surface, usually within the perimacular area, may be observed [56,[79][80][81][82][83][84][85][86]. ERG abnormalities may be seen even when the fundus appears normal.…”