Developmental Medicine & Child Neurology

Table of Contents - 1999 - Volume 41, Issue 09  


Case Reports

Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism

D A Thompson a1c1, A Kriss a1, S Cottrell a2 and D Taylor a1
a1 Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, London, UK
a2 Department of Clinical Molecular Genetics, Great Ormond Street Hospital for Children NHS Trust, London, UK

Abstract

An 8-month-old boy with global developmental delay, including visual and hearing inattention, was examined in the ophthalmic clinic. Monocular flash visual evoked potentials demonstrated a crossed asymmetry in scalp distribution, a feature considered to be pathognomic of albinism. Remarkably a foveal reflex was noted in each eye and this patient did not have nystagmus, iris transillumination, nor conspicuously pale fundi. The optic discs appeared normal. He was noted to have very fair skin and hair, with a small head and flat occiput. Cytogenetic studies demonstrated a microdeletion of the maternal chromosome 15q11–q13, and he was diagnosed with Angelman syndrome.

(Accepted March 31 1999)


Correspondence:
c1 Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK. E-mail: D.Thompson@ich.ucl.ac.uk

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