Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiency
Purpose: To describe the ophthalmic presentation and management of a male infant with homozygous protein C deficiency (PCD). Methods: Case report. Observation: An 8-week-old male infant presented with bilateral vitreous hemorrhage and tractional retinal detachment in the right eye. Work up revealed...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | American Journal of Ophthalmology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993624002160 |
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| author | Moath A. Alowairdhi Mohammed I. Alkhodair Alwaleed M. Alsulaiman Sulaiman M. Alsulaiman |
| author_facet | Moath A. Alowairdhi Mohammed I. Alkhodair Alwaleed M. Alsulaiman Sulaiman M. Alsulaiman |
| author_sort | Moath A. Alowairdhi |
| collection | DOAJ |
| description | Purpose: To describe the ophthalmic presentation and management of a male infant with homozygous protein C deficiency (PCD). Methods: Case report. Observation: An 8-week-old male infant presented with bilateral vitreous hemorrhage and tractional retinal detachment in the right eye. Work up revealed low protein C levels. Whole exome sequencing showed a homozygous likely pathogenic variant in PROC gene. The management included laser photocoagulation to both eyes followed by lens-sparing vitrectomy with membrane peeling to the right eye. Successful outcome was achieved in both eyes. Conclusion and Importance: Congenital PCD is a rare life-threatening disease that usually presents in infancy with purpura fulminans or disseminated intravascular coagulation. However, ophthalmologists should be aware of this condition, as its ocular signs may appear first. Early recognition, laser therapy of the attached ischemic retina and early vitrectomy may be successful in achieving good anatomical and functional outcomes. |
| format | Article |
| id | doaj-art-d95903302970427eb64309be60ad1c95 |
| institution | Kabale University |
| issn | 2451-9936 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj-art-d95903302970427eb64309be60ad1c952024-12-18T08:50:47ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362024-12-0136102206Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiencyMoath A. Alowairdhi0Mohammed I. Alkhodair1Alwaleed M. Alsulaiman2Sulaiman M. Alsulaiman3King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi ArabiaKing Khaled Eye Specialist Hospital, Riyadh, Saudi ArabiaKing Khaled Eye Specialist Hospital, Riyadh, Saudi ArabiaKing Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Corresponding author. Vitreoretinal Division, King Khaled Eye Specialist Hospital, P.O. Box 7191, Riyadh, 11462, Saudi Arabia.Purpose: To describe the ophthalmic presentation and management of a male infant with homozygous protein C deficiency (PCD). Methods: Case report. Observation: An 8-week-old male infant presented with bilateral vitreous hemorrhage and tractional retinal detachment in the right eye. Work up revealed low protein C levels. Whole exome sequencing showed a homozygous likely pathogenic variant in PROC gene. The management included laser photocoagulation to both eyes followed by lens-sparing vitrectomy with membrane peeling to the right eye. Successful outcome was achieved in both eyes. Conclusion and Importance: Congenital PCD is a rare life-threatening disease that usually presents in infancy with purpura fulminans or disseminated intravascular coagulation. However, ophthalmologists should be aware of this condition, as its ocular signs may appear first. Early recognition, laser therapy of the attached ischemic retina and early vitrectomy may be successful in achieving good anatomical and functional outcomes.http://www.sciencedirect.com/science/article/pii/S2451993624002160Protein C deficiencyRetinal detachmentPediatricVitreous hemorrhage |
| spellingShingle | Moath A. Alowairdhi Mohammed I. Alkhodair Alwaleed M. Alsulaiman Sulaiman M. Alsulaiman Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiency American Journal of Ophthalmology Case Reports Protein C deficiency Retinal detachment Pediatric Vitreous hemorrhage |
| title | Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiency |
| title_full | Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiency |
| title_fullStr | Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiency |
| title_full_unstemmed | Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiency |
| title_short | Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiency |
| title_sort | lens sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein c deficiency |
| topic | Protein C deficiency Retinal detachment Pediatric Vitreous hemorrhage |
| url | http://www.sciencedirect.com/science/article/pii/S2451993624002160 |
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