Caroline Bredthauer, BA
Medical Student
New York Medical College
New York, New York, United States
Nathan Michalak, MD
Resident
New York Medical College (Metropolitan)
New York, New York, United States
Mohammad S. Islam, MD
Attending Doctor
New York Medical College/ Metropolitan Hospital
New York, New York, United States
Leber congenital amaurosis
Case Description:
A 7-year-old M with PMHx ASD, Leber congenital amaurosis, presented to outpatient rehabilitation with ataxia/gait incoordination, pes planus, and bilateral knee pain for several years. The patient had already undergone a round of PT 1 year prior but continued to have frequent falls and gait incoordination. His mother also reported that he had previously had difficulty holding a pen and with handwriting, but that this improved with OT.
On examination, the patient had an ataxic and in-toeing gait, with pes planovalgus corrected with tiptoeing. The examination was otherwise normal. Patient was scheduled for further PT for quadriceps and ankle strengthening and balance coordination and OT for upper extremity fine motor coordination. He was also referred for a custom UCBL orthosis with gait plate to help correct gait abnormalities and reduce risk of falls, as well as improve knee pain likely secondary to abnormal gait.
Discussions:
Leber congenital amaurosis is a rare genetic disorder, characterized by early childhood visual impairment. It may also present with gross and fine motor dyscoordination. Physical and occupational therapy is recommended in the treatment of motor dysfunction in this patient population. Orthotics may be useful in this population as well. In this patient, orthotics may be particularly helpful given the pes planovalgus deformity evident on exam. The use of orthotics in patients with Leber congenital amaurosis and deformity of the feet has not previously been studied.
Conclusions:
Patients with Leber congenital amaurosis may present with gait incoordination and motor dysfunction early in childhood. The use of orthotics in this patient population must be assessed via further study in order to elucidate the efficacy of this treatment modality.
