TY  - JOUR
T1  - MUltiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease
AU  - Hoang QV, Blair MP, Rahmani B, Galasso JM, Shapiro MJ
Y1  - 2011/03/01
N1  - 10.1001/archophthalmol.2011.37
JO  - Archives of Ophthalmology
SP  - 373
EP  - 379
VL  - 129
IS  - 3
N2  - 
Muscle-eye-brain (MEB) disease is a rare congenital autosomal recessive disorder with around 30 reported cases in the literature.1- 2 It is 1 of 3 types of congenital muscular dystrophy with severe defects in organogenesis and neuronal migration, and, along with Walker-Warburg syndrome, is associated with ocular abnormalities.3 Usually, the retina in MEB disease and Walker-Warburg syndrome is described as dysplasic.4 A detailed histopathologic description has been given,5 but a clinical description of retinal findings, especially in early disease, is lacking. Herein, we describe detailed retinal findings in a neonate with the diagnosis of MEB disease confirmed by genetic testing.

SN  - 0003-9950
M3  - doi: 10.1001/archophthalmol.2011.37
UR  - http://dx.doi.org/10.1001/archophthalmol.2011.37
ER  -