Surgical Treatment of Traction Retinal Detachment Associated with Compound Heterozygous Congenital Protein C Deficiency

Overview

Journal Am J Ophthalmol Case Rep

Specialty Ophthalmology

Date 2023 May 19

PMID 37206621

Authors

Tomoki Kurihara

Takao Endo

Shumpei Obata

Taeko Hotta

Naoki Nishio

Takayuki Iwaibara

Katsuya Hirata

Sakina Kuge

Yuhei Konishi

Daisuke Yoshida

Takahide Yanagi

Takashi Taga

Kazuko Wada

Norihisa Wada

Shouichi Ohga

Shunji Kusaka

Affiliations

Soon will be listed here.

Abstract

Purpose: Congenital protein C deficiency leads to a prothrombotic state that may result in potentially sight- and life-threatening thromboembolic attacks. In this report, we report two cases of infants with compound heterozygous protein C deficiency who underwent lensectomies and vitrectomies for the treatment of traction retinal detachments (TRDs).

Observations: One two-month-old and one three-month-old female neonates with leukocoria and purpura fulminans received a diagnosis of protein C deficiency and were referred to ophthalmology. In both cases, the right eye had a total retinal detachment that was considered inoperable, while the left eye had a partial TRD for which surgery was performed. Of the two operated eyes, one resulted in a total retinal detachment, while the other eye has remained stable with no retinal detachment progression three months after surgery.

Conclusions: Compound heterozygous congenital protein C deficiency may lead to the rapid development of severe TRDs with poor visual and anatomical prognoses. Early diagnosis and surgery for the treatment of partial TRDs with low disease activity may help prevent progression towards total retinal detachments in these infants.

Citing Articles

Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiency.

Alowairdhi M, Alkhodair M, Alsulaiman A, Alsulaiman S Am J Ophthalmol Case Rep. 2024; 36:102206.

PMID: 39526299 PMC: 11550660. DOI: 10.1016/j.ajoc.2024.102206.

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