Pediatric Retinal Detachment in Homozygous Protein C Deficiency: Genetic and Phenotypic Description of a Single Family

• Published in: Ophthalmic surgery, lasers & imaging Vol. 53; no. 5; pp. 293 - 296
• Main Authors: Alotaibi, Mohammed D, Albakri, Amani S, Alsulaiman, Sulaiman M
• Format: Journal Article
• Language: English
• Published: United States Slack, Inc 01.05.2022; SLACK INCORPORATED
• Subjects: Anesthesia; Angiography; Anticoagulants; Child; Childbirth & labor; Children & youth; Congenital diseases; Cornea; Discoloration; Families & family life; Fluorescein; Fluorescein Angiography; Genetic screening; Hemorrhage; Humans; Lasers in medicine; Marriage; Medical imaging; Medical research; Medicine, Experimental; Mutation; Pediatrics; Protein C; Protein C Deficiency - complications; Protein C Deficiency - diagnosis; Protein C Deficiency - genetics; Proteins; Purpura; Retinal detachment; Retinal Detachment - etiology; Retinal Detachment - genetics; Thrombosis; Ultrasonic imaging; Veins & arteries; Saudi Arabia
• ISSN: 2325-8160; 2325-8179
• DOI: 10.3928/23258160-20220414-01

Homozygous protein C deficiency is a rare hypercoagulability disorder. This study describes the ocular manifestations and the genetic background in a family with two affected children. This is a retrospective review of ophthalmic examinations, investigations, genetic testing, and blood work-up of two children with homozygous protein C deficiency from a single family. A family with a positive history of consanguineous marriage was found to have two affected children with homozygous protein C deficiency. Abnormal visual behavior was the presenting symptom. Both children had bilateral total tractional retinal detachments at presentation. Skin manifestations included episodes of discoloration and bruising. Laboratory work-up revealed absent protein C activity. Genetic testing confirmed the presence of a homozygous pathogenic mutation in protein C gene (NM_000312.3: c.1297G>A: p.Gly433Ser). Homozygous protein C deficiency should be considered in the differential diagnosis of early-onset tractional retinal detachment in infancy. Although rare, the ophthalmologist may be the first to encounter the condition, and treatment with protein C replacement or anticoagulants may be life-saving. Examination under anesthesia with fluorescein angiography and laser treatment early in life may be warranted to preserve vision. [ ].