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1)
Goldmann
perimetry revealed markedly
constricted visual fields to 10 degrees OU.
2)
The ERG
under light- and dark-adapted conditions
showed no cone or rod response OU.
3) The results
from the general medical examination were normal
according to the patient’s pediatrician. Based on the history
of congenital blindness, the presence of pendular nystagmus, deep
set eyes, constricted visual fields, and the fundus and ERG findings,
we concluded the patient had Leber’s
congenital amaurosis.
4) Family history:
Records from another institution documented the diagnosis
of Leber’s congenital amaurosis (LCA) at age 15 months on
the basis of congenital blindness, funduscopic appearance of peripheral
RPE hyperplasia in a bone spicule pattern in both eyes, and reduced
ERG responses under photopic and mesopic conditions. The
patient has 3 siblings: an older brother who was also diagnosed
with LCA and a sister with normal vision. The patient’s parents
were third cousins. The family history is otherwise unremarkable.
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