Cri du Chat Syndrome: Case Presentation and Review

Appears in issue JBO - Volume 23 - Issue 4

Sarah Sweeney, OD

Background: Patients with Cri du Chat syndrome (CdCs) often present with hallmark signs of the condition
including craniofacial malformations, varying degrees of mental retardation, and language/communication delays.
They are often previously diagnosed and under the care of other medical professionals. However, significant ocular,
developmental, and visual-spatial concerns for which CdCs patients are pre-disposed must be identified and treated.
The following case study presents a patient with CdCs, and further investigates the occurrence of the syndrome and
methods of diagnosis, management, and prognosis of associated ocular sequelae.
Case Report: A six-year-old female presented for an examination. Her parents wanted advice on incorporating
vision therapy to help reduce the daughter’s eye turn. She had been diagnosed with CdCs at birth and accommodative
esotropia at the age of two. She was wearing moderate plus lenses for several hours a day while doing near work.
Characteristic signs of CdCs were evident including micrognathia, high-pitched voice, severe developmental delays,
and strabismus. The examination consisted of qualifying and quantifying the strabismus, visual acuity estimation,
extraocular muscle testing, and patient observation using gross motor movements.
Conclusion: While most CdCs patients will present with a history of diagnosis and management by other health
care professionals, the responsibility of identifying ocular abnormalities and visual-spatial deficiencies remain an
essential part of the examination. Signs of amblyopia (the leading cause of vision loss in patients with CdCs),
strabismus, high refractive error, cataracts, lid/adnexal disease, optic nerve atrophy and/or dysplasia, and poor
kinesthetic/spatial awareness may be subtle and challenging to obtain, but must not go overlooked when caring for
patients within this population.