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Case Reports
. 2022 Oct 17;7(1):74-78.
doi: 10.1177/24741264221129430. eCollection 2023 Jan-Feb.

Coats Plus Syndrome in a Premature Infant, With a Focus on Management

Avery E Sears  1 , Caroline C Awh  2 , Shafeeque Kunhiabdullah  3 , Jonathan E Sears  2 , Danny A Mammo  2
Affiliations
Case Reports

Coats Plus Syndrome in a Premature Infant, With a Focus on Management

Avery E Sears et al. J Vitreoretin Dis. .

Abstract

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.

Keywords: Coats plus syndrome; cerebroretinal microangiopathy with calcifications and cysts; retinal telangiectasia; telomere.

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Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Fundus photographs at 6 weeks of age show (A) total exudative retinal detachment in the right eye and (B) dilated telangiectatic vessels in the left eye.
Figure 2.
Figure 2.
Fluorescein angiography of left eye at 6 weeks of age shows (A) posterior avascularity with early leakage, seen for 360 degrees. (B) The superior retina shows ischemia posterior to vascularized retinal border.
Figure 3.
Figure 3.
Fundus photographs 2 weeks after initial laser treatment and high-dose steroids show (A) resolution of the retinal detachment in the right eye and (B) decreased vascular activity in the left eye.
Figure 4.
Figure 4.
T2-weighted axial magnetic resonance imaging shows (A) bilateral thalamic enlargement with heterogeneous T2 hyperintensity and (B) T2 hyperintensity in the temporo-occipital lobes, greater in the right eye than in the left eye.
See this image and copyright information in PMC

References

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