The study investigates the neurological substrate in children with congenit
al disorders of the peripheral visual system (CDPVS), i.e. disorders of the
anterior visual pathways and the globe. The design is retrospective; brain
MRI and/or CT scans were traced and reviewed for 79 of 254 children with C
DPVS on our database. The neuroradiological findings were considered in the
context of degree of visual impairment (profound [PVI] and severe [SVI]),
developmental outcome (setback and non-setback), and mode of imaging (MRI a
nd CT). Scans were abnormal in 40 of 79 (51%) children; 23 of 40 (58%) had
more than one lesion; and in some children lesions not previously reported
were found. The number of abnormalities per child was significantly higher
in the PVI than the SVI group (P<0.05); the level of significance varied ac
cording to the method of scanning (MRI, P<0.001; CT, ns). Seven children we
re known to have had developmental setback; significantly more brain abnorm
alities per child were found in the group with setbacks than in the group w
ithout (P<0.001). Eighty-six percent (24 of 28) of MRI compared with 38% (2
2 of 58) of CT scans were abnormal. MRI detected more lesions per child tha
n CT (P<0.001). Thus, a significant amount of brain pathology occurs in chi
ldren with CDPVS. The number of lesions varies directly with degree of visu
al impairment and both correlate with developmental outcome. As brain patho
logy will be only one of many factors influencing developmental progress in
visually impaired children, prospective multifactorial studies of the CDPV
S population, which include MRI studies of the neurological substrate, will
be required to clarify the latter.