Journal of vitreoretinal diseases · 2022
Coats Plus Syndrome in a Premature Infant, With a Focus on Management.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Sears Avery E, Awh Caroline C, Kunhiabdullah Shafeeque, Sears Jonathan E, Mammo Danny A
Аннотация
PURPOSE: A premature infant was diagnosed with Coats plus syndrome based on a genetic evaluation showing biallelic heterozygous pathogenic CTC1 variants.
METHODS: A case study was performed, including findings and interventions.
RESULTS: A premature infant born 30 weeks gestational age weighing 817 g was evaluated for retinopathy of prematurity at 35 weeks corrected gestational age. An initial dilated fundus examination showed an exudative retinal detachment (RD) in the right eye and avascularity post-equatorially in the left eye with telangiectasias and aneurysmal dilations. Genetic evaluation showed biallelic heterozygous pathogenic CTC1 variants, diagnostic of Coats plus syndrome. Sequential examination under anesthesia with fluorescein showed progressive ischemia despite confluent photocoagulation.
CONCLUSIONS: CTC1 gene variants manifest as Coats plus syndrome, which has a clinical appearance consistent with retinovascular ischemia, capillary remodeling, aneurysmal dilation, and exudative RD. Systemic and local corticosteroids in conjunction with peripheral laser ablation decreased vascular exudation and avoided intraocular intervention.
METHODS: A case study was performed, including findings and interventions.
RESULTS: A premature infant born 30 weeks gestational age weighing 817 g was evaluated for retinopathy of prematurity at 35 weeks corrected gestational age. An initial dilated fundus examination showed an exudative retinal detachment (RD) in the right eye and avascularity post-equatorially in the left eye with telangiectasias and aneurysmal dilations. Genetic evaluation showed biallelic heterozygous pathogenic CTC1 variants, diagnostic of Coats plus syndrome. Sequential examination under anesthesia with fluorescein showed progressive ischemia despite confluent photocoagulation.
CONCLUSIONS: CTC1 gene variants manifest as Coats plus syndrome, which has a clinical appearance consistent with retinovascular ischemia, capillary remodeling, aneurysmal dilation, and exudative RD. Systemic and local corticosteroids in conjunction with peripheral laser ablation decreased vascular exudation and avoided intraocular intervention.