Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome.
OBJECTIVE
Walker-Warburg syndrome (WWS) is a type of congenital muscular dystrophy (CMD) characterised by severe brain malformation, lissencephaly, and congenital eye abnormalities. Despite the coexistence of various eye abnormalities, results from optical coherence tomography (OCT) in WWS have not previously been reported. We herein report specific OCT findings in an infant with WWS.


METHODS
The patient was a 14-day-old boy delivered by caesarean section at 38 weeks and 4 days of gestation and with a birth weight of 2,543 g. A cranial MRI showed lissencephaly, hydrocephalus, an encephalocele, and cerebellar hypoplasia, consistent with the diagnosis of WWS.


RESULTS
A bilateral ocular examination showed no abnormalities of the anterior eye segment. A fundus examination showed a persistent hyaloid artery in the vitreous cavity, a widespread loss of fundus pigmentation, transparent choroidal vessels (some choroidal vessel sections were visible), and the absence of a distinct macular reflex. OCT showed no foveal pit and an indistinct laminar structure of the retina. The infant subsequently developed congenital glaucoma and he then died of respiratory failure at the age of 8 months.


CONCLUSIONS
WWS is associated with a high incidence of congenital eye abnormalities, and this infant showed findings consistent with WWS. OCT revealed a marked retinal dysplasia.
Department of Ophthalmology, Takatsuki Hospital, Takatsuki City, Japan.
Natsuko
N
Mano
Department of Ophthalmology, Takatsuki Hospital, Takatsuki City, Japan.
Tatsuma
T
Mitsutsuji
Department of Ophthalmology, Takatsuki Hospital, Takatsuki City, Japan.
Yamato
Y
Yoshikawa
Department of Ophthalmology, Takatsuki Hospital, Takatsuki City, Japan.
Makiko
M
Miyamoto
Department of Ophthalmology, Takatsuki Hospital, Takatsuki City, Japan.
Hiroko
H
Watanabe
Department of Ophthalmology, Takatsuki Hospital, Takatsuki City, Japan.
Kazuhiro
K
Shimizu
Department of Ophthalmology, Osaka Medical College, Takatsuki City, Japan.
Michiko
M
Miki
Department of Ophthalmology, Osaka Medical College, Takatsuki City, Japan.
Masashi
M
Mimura
Department of Ophthalmology, Osaka Medical College, Takatsuki City, Japan.
Mari
M
Ueki
Department of Ophthalmology, Osaka Medical College, Takatsuki City, Japan.
Tsunehiko
T
Ikeda
Congenital glaucoma; Optical coherence tomography; Persistent hyaloid artery; Retinal dysplasia; Walker-Warburg syndrome