Cataract in early onset and classic Cockayne syndrome

Rc, Ferreira; Er, Roeder; Jb, Bateman

doi:10.3109/13816819709041434

Cited by 7 publications

(1 citation statement)

References 17 publications

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“…Cortical posterior vacuoles and nuclear cataracts have also been described. 10 We also did not find a specific type of cataract ( Figure 5). The outcome of cataract surgery in children with CS2 has not been reported previously to our knowledge.…”

Section: Discussionmentioning

confidence: 56%

Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic

Goyal

Thompson

Timms

et al. 2007

Eye

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Purpose We reviewed all children presenting with microcephaly and bilateral congenital cataract in our paediatric cataract clinic, to identify their underlying diagnosis and clinical features that could help in early diagnosis of such conditions. Methods We screened our cataract database to collect data on all children presenting to our institute with cataract before 1 year of age for a period of 5 years (1997)(1998)(1999)(2000)(2001) inclusive. We found 166 cases of cataract, of which 85 were bilateral. Of the 85 children with bilateral cataract, five also had microcephaly. The case notes of these five children were retrospectively reviewed for age at presentation, ocular and systemic examination findings, results of electro diagnostic testing, outcome of cataract surgery, and any additional investigation results. Results In our series, three children were diagnosed with early-onset Cockayne syndrome (CS2), one was diagnosed with Micro syndrome and one with HallermannStreiff syndrome. Electrodiagnostic testing was abnormal in four of the five cases, and growth failure was present in all five. There was a good outcome from surgery in the three children with CS2 and the child with Hallermann-Strieff. There was a poor outcome in the child with Micro syndrome. Conclusions The presence of microcephaly in children presenting with bilateral cataracts in infancy is strongly suggestive of a syndromic cause. Early-onset Cockayne syndrome was the commonest underlying diagnosis in our series, but clinicians should be aware of other possibilities, and we discuss the differential diagnosis. Head circumference should be checked routinely in children with congenital cataract.

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Section: Discussionmentioning

confidence: 56%