Scholarlink

Background <p>Peters Plus syndrome (PPS) is an autosomal recessive disorder characterized by a combination of anterior segment abnormalities of the eye, disproportionate short stature, distinctive facial features, and developmental delay caused by a B3GLCT gene mutation.</p> Case presentation <p>A 12-month-old boy who was referred for short stature and had a significant decrease in growth index during follow-up was treated with growth hormone (GH) for five years from the age of 2 years due to growth hormone deficiency and genetic findings consistent with PPS, which resulted in a significant improvement in his growth velocity. Additionally, the patient presented posterior segment ocular findings, including bilateral retinal atrophy.</p> Conclusions <p>Growth hormone therapy was an effective option with favorable safety profile for increasing growth velocity and improving height in our PPS patient studied. Chorioretinal findings, including bilateral retinal atrophy and retinal detachment may develop because of severe myopia.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Remarkable response to growth hormone therapy in a patient with peters plus syndrome with posterior segment ocular involvement: long-term follow-up expanding clinical experience

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月4日

查看全文
  • Mohamad Ahangar Davoodi,
  • Mozhgan Jafari,
  • Mohammad Akhlaqi,
  • Mohsen Felegary

摘要

Background

Peters Plus syndrome (PPS) is an autosomal recessive disorder characterized by a combination of anterior segment abnormalities of the eye, disproportionate short stature, distinctive facial features, and developmental delay caused by a B3GLCT gene mutation.

Case presentation

A 12-month-old boy who was referred for short stature and had a significant decrease in growth index during follow-up was treated with growth hormone (GH) for five years from the age of 2 years due to growth hormone deficiency and genetic findings consistent with PPS, which resulted in a significant improvement in his growth velocity. Additionally, the patient presented posterior segment ocular findings, including bilateral retinal atrophy.

Conclusions

Growth hormone therapy was an effective option with favorable safety profile for increasing growth velocity and improving height in our PPS patient studied. Chorioretinal findings, including bilateral retinal atrophy and retinal detachment may develop because of severe myopia.