Egyptian Journal of Medical Human Genetics · Published 2026-05-04 · DOI 10.1186/s43042-026-00866-0
Abstract 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.
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