Related Experiment Videos
Lensectomy in an infant with cri du chat syndrome and cataracts
J W Farrell1, K S Morgan, S Black
1LSU Eye Center, New Orleans 70112.
Insights
Cri du chat syndrome, a genetic disorder, can be associated with congenital cataracts. This case highlights a balanced translocation in a mother passing the condition to her infant, who received cataract treatment.
Area of Science:
- Genetics
- Ophthalmology
- Pediatrics
Background:
- Cri du chat syndrome is a genetic disorder caused by a deletion on the short arm of chromosome 5.
- Congenital cataracts are clouding of the lens present at birth.
- The association between cri du chat syndrome and congenital cataracts is not widely established.
Observation:
- An 11-month-old infant diagnosed with cri du chat syndrome presented with bilateral congenital cataracts.
- The chromosomal abnormality, a balanced 5/11 translocation, was inherited from a phenotypically normal mother.
- The infant underwent surgical intervention for cataracts and was fitted with contact lenses.
Findings:
- This case demonstrates a potential link between cri du chat syndrome and congenital cataracts.
- Balanced chromosomal translocations can lead to genetic disorders and associated phenotypes in offspring.
- Early intervention for congenital cataracts in infants with genetic syndromes is crucial.
Implications:
- Genetic counseling is important for carriers of balanced translocations.
- Further research is warranted to explore the prevalence and mechanisms of cataracts in cri du chat syndrome.
- This case underscores the importance of comprehensive ophthalmological evaluations in infants with genetic syndromes.
Abstract:
We report an 11-month-old infant with cri du chat syndrome and cataracts. The chromosomal abnormality was transmitted via a balanced 5/11 translocation from a phenotypically normal mother. The child underwent bilateral cataract extraction and was fitted with extended wear contact lenses. Congenital cataracts may be associated with cri du chat syndrome.