OBJECTIVE: To determine the nature and course of ophthalmologic abnormalities in 
congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome in a 
genetically verified group of 9 patients.
STUDY DESIGN: Observational case series.
PARTICIPANTS: Nine affected male individuals of 5 pedigrees aged 1.3 to 16.8 
years were examined. Four individuals were recruited during an ongoing 
prospective study of congenital cataracts; 5 individuals could be assigned to 
the CCFDN group on the basis of our retrospective data.
MAIN OUTCOME MEASURES: Linkage and haplotype analysis, neurologic examinations, 
bilateral cataracts, axial length, corneal diameter, pupil diameter and 
pupillary reactions, intraoperative and postoperative complications, lid 
changes, aphakic correction problems, refractive results, and visual function.
RESULTS: All families originated from the eastern part of Serbia, close to the 
border with Romania. The 8 tested individuals were homozygous for the conserved 
ancestral CCFDN haplotype in the telomeric region of chromosome 18q. All 
patients showed a peripheral, demyelinating neuropathy and varying degrees of 
ataxia. In the older patients, muscular atrophy in distal muscles and facial 
dysmorphism was evident. Early-onset bilateral congenital cataracts associated 
with microcornea, microphthalmos, and micropupil could be found in all patients. 
All children had floppy eyelid syndrome and pseudoptosis. An increased 
inflammatory reaction to contact lenses and intraocular lenses could be 
documented in all. All patients had syndrome-associated nystagmus and congenital 
esotropia. Distant visual acuity could be classified as severe to moderate 
impairment, whereas near visual acuity was much better (mild to moderate 
impairment).
CONCLUSIONS: Early-onset congenital cataracts associated with microcornea, 
microphthalmos, and micropupil are essential ocular features of the CCFDN 
syndrome and are the first recognizable signs during early infancy. Awareness of 
this syndrome by pediatric ophthalmologists is important, because these typical 
findings, combined with information on ethnic origin, may lead to very early 
diagnosis at an age when the nature and severity of nonophthalmologic features 
are not apparent. Affected individuals may benefit from careful ophthalmologic 
treatment and follow-up, as well as from early management of the neurologic 
problems and developmental delay. Affected families will benefit from genetic 
counseling and predictive testing.