RT Journal Article
SR Electronic
T1 A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis.
JF British Journal of Ophthalmology
JO Br J Ophthalmol
FD BMJ Publishing Group Ltd.
SP 421
OP 431
DO 10.1136/bjo.68.6.421
VO 68
IS 6
A1 A. T. Moore
A1 D. S. Taylor
YR 1984
UL http://bjo.bmj.com/content/68/6/421.abstract
AB Three children who presented in infancy with a severe visual defect and absent or barely recordable electroretinograms, with relatively well preserved visually evoked cortical potentials, were subsequently found to have vertical and horizontal saccade palsies with head thrusts but relatively good visual acuity. These children, who were clearly different from other infants with congenital retinal dystrophy, were also developmentally delayed and had systemic motor and speech defects, but their visual prognosis was relatively good. The recognition of their saccade palsy was delayed because their poor visual attention in infancy was ascribed purely to the tapetoretinal degeneration. We consider these patients represent a clear subset of those patients who are diagnosed as having congenital retinal dystrophy or Leber's amaurosis.