X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal
disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and …

Background: Incomplete X-linked congenital stationary night blindness (CSNB) is a clinically
variable condition that has been shown to be caused by mutations in the calcium-channel …

Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically
related autosomal dominant disorders which affect the anterior segment of the eye as well …

Autosomal dominant keratitis (ADK) is an eye disorder chiefly characterized by corneal
opacification and vascularization and by foveal hypoplasia. Aniridia (shown recently to result …

Methods Several members of the family to be described were attending hospital for eye
treatment. Others were examined in their homes. 20 ml. intravenousblood were taken for …

To the Editor: After the recent genetic localization of the ocular genetic disorder
iridogoniodysgenesis anomaly to 6p25 (Mears et al. 1996), we now provide evidence that a …

Diagnostic and Genetical Aspects ofTuberous Sclerosis Page 1 J. med. Genet. (1968). 5, 273.
Diagnostic and Genetical Aspects ofTuberous Sclerosis NC NEVIN* and W. G. PEARCE From …

Eight patients with long-standing large-angle constant tropias unexpectedly achieved
stereoacuity (40 seconds of arc in six patients and 60 seconds of arc in two patients) …

X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder
characterized by disturbed or absent night vision; its clinical features may also include …

Autosomal dominant iridogoniodysgenesis anomaly (IGDA) is characterized by iris
hypoplasia and goniodysgenesis with frequent juvenile glaucoma. IGDA is the result of …