Genetic disorder mainly characterized in affected
males by ocular anomalies (e.g., microphthalmos), microencephaly, mental
retardation, agenesis of the corpus callosum, and urogenital anomalies.
Lethal in infancy.
The first report described four
related males in 1985. Transmission is X-linked recessive.
Diagnosis is clinical, based mostly on the ocular
findings and on imaging studies confirming absence of the corpus callosum.
Affected male patients present with complicated ocular anomalies such as
microphthalmos, corneal hypoplasia and pannus, cataracts, uveal and optic
nerve hypoplasia, retinal dysplasia, and congenital blepharoptosis and
swollen eyelids. Other consistent findings are microcephaly, agenesis of the
corpus callosum, mental retardation, hypospadias, and cryptorchidism. The
condition is lethal in infancy or early childhood.
Because patients with this syndrome are
mentally delayed and almost blind, obtaining their cooperation may be
difficult. Sedative and anxiolytic premedication and the presence of the
primary caregiver during induction of the anesthesia may be helpful.
Lenz Syndrome: Very rare disorder with multiple anomalies, such
as neurologic, craniofacial, ocular, skeletal, and urogenital
Duker JS, Weiss JS, Siber M, et al: Ocular findings in a new heritable
syndrome of brain, eye, and urogenital abnormalities. Am J Ophthalmol