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Published on: June 14, 2021
Surgical treatment of traction retinal detachment associated with compound heterozygous congenital protein C
Tomoki Kurihara1,2, Takao Endo3, Shumpei Obata4
1Department of Ophthalmology, Kindai University Faculty of Medicine, 377-2 Onohigashi, Osakasayama, Osaka, 589-8511, Japan.
Insights
Congenital protein C deficiency can cause severe retinal detachments in infants. Early diagnosis and surgical intervention for partial detachments may prevent total vision loss.
Area of Science:
- Ophthalmology
- Hematology
- Genetics
Background:
- Congenital protein C deficiency creates a prothrombotic state, increasing risks of thromboembolic events.
- This condition can manifest in neonates with severe symptoms like purpura fulminans and leukocoria.
Observation:
- Two infant cases of compound heterozygous protein C deficiency presented with tractional retinal detachments (TRDs).
- One infant had a total, inoperable retinal detachment in one eye and a partial TRD in the other, which underwent surgery.
- Post-surgery, one eye progressed to total retinal detachment, while the other remained stable.
Findings:
- Compound heterozygous protein C deficiency is linked to rapid TRD development with poor visual prognosis.
- Infants with this deficiency are susceptible to sight-threatening thromboembolic complications.
Implications:
- Early diagnosis of protein C deficiency in neonates is crucial for managing ophthalmic complications.
- Prompt surgical treatment for partial TRDs in affected infants may prevent disease progression and preserve vision.
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.
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