Ophthalmic Presentation of Lipoid Proteinosis in Iraqi Siblings: Case Report

Doi: 10.36351/pjo.v39i2.1587


  • Ali Nema Abushnein
  • Khitam Fakhir Alhasseny




The present study highlights the clinical manifestations, progression, and conservative treatment of lipoid proteinosis in two patients from an Iraqi family. An abnormal buildup of glycoprotein in numerous organs is known as lipoid proteinosis (LP), an autosomal recessive disorder. Hoarseness of speech, skin lesions, scars, papules that bead up around the eyelids, are all potential symptoms. Epilepsy and neuropsychiatric diseases can result from calcifications of brain tissue. In this paper, two cases of 13 and 15-yearold Iraqi family siblings (born to consanguineous parents) are reported. They were presented to Ibn Al-Haithem Hospital with hoarseness and characteristic symptomatic moniliform eyelid lesions. Biopsy confirmed the diagnosis. Though ocular involvement in LP is rare, ophthalmologists may encounter diverse ocular complications. With the exception of possible acute respiratory or neurological sequelae, the disease runs a slowly progressive but otherwise benign course. The rarity of this disease motivated this report.




How to Cite

Ali Nema Abushnein, Khitam Fakhir Alhasseny. Ophthalmic Presentation of Lipoid Proteinosis in Iraqi Siblings: Case Report: Doi: 10.36351/pjo.v39i2.1587. pak J Ophthalmol [Internet]. 2023 Apr. 1 [cited 2024 Jul. 14];39(2). Available from: https://pjo.org.pk/index.php/pjo/article/view/1587



Case Report