A 3-month-old girl with infantile spasms is referred to your clinic and
has the following findings on fundus exam (see image). What abnormality
is she mostly likely to have on further examination and workup?
Vitreous and Retinal Diseases and Disorders
This photograph depicts oval chorioretinal lacunae, the classic finding of Aicardi Syndrome.
This is an X-linked dominant condition (i.e. lethal in males,
except if person is XXY [Klinefelter] ), although the gene that causes
this syndrome has not been identified as of 2012.
The classic triad of Aicardi syndrome is chorioretinal lacunae, agenesis of the corpus callosum, and infantile spasms.
Other ocular abnormalities include colobomas and microphthalmos.
Infantile spasms typically develop before the age of 5 months and these
individuals experience significant developmental delay.
Answer "B" is referring to ocular toxocariasis which can commonly result in leucokoria (25%), localized macular granuloma (25%), or a peripheral granuloma (50%).
Answer "C" is referring to Batten's disease which can result in
optic atrophy, macular pigmentary deposits, and low/absent ERG.
Patients with the different types of neuronal ceroid lipofuscinosis
(Batten disease) can present with seizures, but typically a little later
Answer "D" is referring to neurofibromatosis type 2 whose classic
findings are bilateral acoustic neuromas, cafe-au-lait spots (60%),
combined retinal-RPE hamartomas, and posterior subcapsular cataracts.