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

ABSTRACT:

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 c

SUBMITTER: Huang Y 

PROVIDER: S-EPMC9791505 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature