ArticleWorld journal of clinical cases2022
Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia: Two case reports.
Article in World journal of clinical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors at 1 institution in 1 country.
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Abstract
backgroundPitt-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
conclusionEarly treatment of strabismus and myopia positively influence motor development and should be included in rehabilitation programs for patients with PTHS.
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