Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia: Two case reports

BACKGROUND: Pitt-Hopkins syndrome (PTHS; MIM #610954) is a rare genetic neurological disorder. Myopia and strabismus have been reported in approximately 50% of PTHS patients. No studies have reported details about the required surgery for PTHS with strabismus and early-onset myopia. Here, we retrospectively reviewed the surgical management of two patients with PTHS combined with strabismus and/or early-onset myopia. CASE SUMMARY: A 5-year-old girl presented with congenital esotropia and left eye myopia, and the second girl was a 5-year-old girl who presented with intermittent exotropia. Genetic testing performed on both patients showed a mutation in transcription factor 4, which is a diagnostic marker of PTHS. The first girl underwent bilateral medial rectus recession combined with posterior scleral reinforcement (PSR) in the left eye and the second patient underwent bilateral lateral rectus recession strabismus surgery. We made key innovations in surgical timing and strategy, and the results were satisfactory. The combination of strabismus and PSR surgery is an innovative strategy for patients with both strabismus and early-onset myopia. CONCLUSION: Early treatment of strabismus and myopia positively influence motor development and should be included in rehabilitation programs for patients with PTHS.