Coats disease in a female child in Colombia: A surgical success

Sara Margarita Perez; Camilo Eduardo Martínez; Valentina Cárdenas; María Camila González

doi:10.4103/pajo.pajo_16_23

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CASE REPORT

Year : 2023 | Volume : 5 | Issue : 1 | Page : 24

Coats disease in a female child in Colombia: A surgical success

Sara Margarita Perez, Camilo Eduardo Martínez, Valentina Cárdenas, María Camila González
Department of Ophthalmology, Pontifical Xaverian University, Bogotá, Colombia

Date of Submission	16-Mar-2023
Date of Decision	03-Apr-2023
Date of Acceptance	10-Apr-2023
Date of Web Publication	27-Jun-2023

Correspondence Address:
Sara Margarita Perez
Department of Ophthalmology, Pontifical Xaverian University, 7^th Street #40-62, Zip Code: 111121, Bogotá
Colombia

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/pajo.pajo_16_23

Abstract

This article aims to report the case of a female child with Coats disease stage 5 who underwent posterior vitrectomy plus perfluorocarbon liquid injection, internal drainage, endolaser, and cryotherapy. Follow-up of the patient showed that although visual recovery was not able to achieve due to its severity, and anatomical preservation of the eye with an appropriate surgical approach was guaranteed.

Keywords: Coats disease, exudative retinopathy, retinal telangiectasias

How to cite this article:
Perez SM, Martínez CE, Cárdenas V, González MC. Coats disease in a female child in Colombia: A surgical success. Pan Am J Ophthalmol 2023;5:24

How to cite this URL:
Perez SM, Martínez CE, Cárdenas V, González MC. Coats disease in a female child in Colombia: A surgical success. Pan Am J Ophthalmol [serial online] 2023 [cited 2023 Sep 27];5:24. Available from: https://www.thepajo.org/text.asp?2023/5/1/24/379758

Introduction

Coats disease is an idiopathic condition characterized by the presence of telangiectatic and aneurysmatic retinal vessels, which leads to intraretinal and subretinal exudative changes.^[1] The clinical spectrum of the disease is variable. At the initial stages, it can present with asymptomatic perifoveal telangiectasias as an incidental finding and in more severe ones with total exudative retinal detachment that may progress to neovascular glaucoma or worse to phthisis bulbi.^[2]

Coats disease predominantly affects men, in a 3:1 ratio comparative with women. Seventy-five percent of the patients have an unilateral involvement.^[3] There are still no reports of the incidence and prevalence of the disease in Colombia, but as an uncommon condition, its prevalence is about 0.09 per 10,000 inhabitants in a developed country like the United Kingdom.^[3]

The treatment of this condition includes ablation of telangiectatic vessels either by laser photocoagulation or cryotherapy. However, some patients underwent surgical interventions, especially in cases of total retinal detachment. Nowadays, the dual therapeutic intervention with vitrectomy and intravitreal injection of antiangiogenic agents has shown to be highly effective in reducing edema and exudation. Additionally, in some patients, this therapy may induce to total resolution of retinal detachment.^[2]

There is a scarcity of reports on Coats disease in South America and no prior cases have been reported in Colombia.

Case Report

A 2-year-old girl with a medical history of prematurity and twin pregnancy was referred to our clinic with clinical findings of leukocoria in the right eye (OD) observed by the mother a year before consulting. Ophthalmological examination OD showed white pupillary reflex, without fixation or rejection of light. Comparatively, in the left eye (OS), red reflex was present, with the rejection of light. A complete ophthalmologic examination was performed with findings of 60° endotropia in OD. Intraocular pressure OD was 10 mmHg and OI was 11 mmHg, with no other positive finding. Funduscopic examination under anesthesia OD revealed total funnel retinal detachment, massive subretinal lipid exudation, subretinal cholesterol crystals, and 360° telangiectasias [Figure 1]a and [Figure 1]b. In OS, the fundoscopic examination was completely normal. Ultrasonography of the OD showed a linear echo indicating retinal detachment and vitreous echoes of medium density that could correspond with subretinal cholesterolosis [Figure 2]. A retrolental mass was also observed. Magnetic resonance imaging demonstrated a smaller volume of the right ocular globe and an abnormal vitreous content: isointense on T1-weighted images and with a septated appearance on T2-weighted images, without clear mass images [Figure 3].

Figure 1: (a and b) Funduscopic examination under anesthesia OD. The fundus revealed total funnel retinal detachment, massive subretinal lipid exudation, subretinal cholesterol crystals, and peripheral nasal and temporal telangiectasias

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Figure 2: Ultrasonography OD showing a linear echo indicating retinal detachment and vitreous echoes of medium density that could correspond with subretinal cholesterolosis. A retrolental mass was also observed

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Figure 3: Magnetic resonance imaging demonstrated a smaller volume of the right ocular globe and an abnormal vitreous content: isointense on upper left and with a septated appearance on upper and inferior right, without clear mass images

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A clinical diagnosis of stage 5 disease was made in OD. For that reason, a subsequent posterior vitrectomy plus perfluorocarbon injection, internal drainage, endolaser, and all possible cryotherapy were performed. Surgery description reported a 360° peritomy and three sclerotomies with constant inferotemporal infusion. Following, phacoemulsification and aggressive anterior, medial and posterior vitrectomy was made. Given the findings of vitreous hemorrhage, dilated capillaries with “light bulb” aneurysms, venous macroaneurysms, peripheral ischemia with complete retinal detachment [Figure 2] and [Figure 3], and drainage of subretinal fluid a vitrectomy were performed using biom system in the vitreous base with subsequent injection of liquid perfluorocarbon. Afterward, a 360° cryotherapy in the retinal periphery was made in order to stabilize the areas of highly prevalence of neovascularization and telangiectasias, followed by endolaser ablation. Finally, fluid-air exchange was performed with a Charles cannula, achieving complete retinopexy, with subsequent removal of trocars and closing of sclerotomies and conjunctiva with Vicryl 7.0. The procedure was considered successful without any associated intraoperatively complications. One year after the procedure, the patient's fundoscopic examination with 20D lens showed extensive chorioretinal atrophy with traces of cryotherapy and resolution of lipid exudates with subretinal fibrosis around the aneurysms. The patient was referred for strabismus surgery to correct endotropia of the right eye, which, although it was in light perception, would esthetically preserve its anatomy.

Discussion

Coats disease was first described by George Coats^[4] in 1908, who exposed it as a disease characterized by retinal telangiectasias and exudation of unknown etiology. Clinically, it usually presents as unilateral progressive loss of vision, strabismus, or leukocoria,^[5] as in the case presented above. These clinical findings make retinoblastoma the most important differential diagnosis since, in Coats disease, almost half of the cases are initially misdiagnosed, mostly as retinoblastoma^[6] and could lead to an incorrect approach. This disease can be differentiated from other exudative retinopathies such as retinopathy of prematurity, familial exudative retinopathy, and Norrie disease given the absence of a history of prematurity, family history, and vitreoretinal traction.^[6] Finally, there must also be ruled out other causes of leukocoria, including retinal hemorrhage, hemangioblastoma, toxocariasis, persistent fetal vasculature, choroidal hemangioma, coloboma, endophthalmitis, cytomegalovirus retinitis, and toxoplasmosis.^[6],[7] In order to differentiate Coats disease from the conditions presented above, multiple tools are available such as ultrasound, fluorescein angiography, and optical coherence tomography (OCT), among others.^[6] In this case, the magnetic resonance and ocular ultrasonography were not suggestive of the possible differential diagnosis listed above.

Nowadays, the disease has been classified given the clinical findings into five stages: retinal telangiectasias (stage 1), retinal telangiectasias plus extrafoveal and foveal exudation (stages 2 and 2b), subtotal and total retinal exudative detachment (stages 3 and 3b), retinal detachment plus secondary glaucoma (stage 4), and the final stage of advanced disease (stage 5).^[8] The specific molecular mechanism of the disease remains unclear; however, mutations in the Norrie protein, the CRB1 gene, and PANK2 have been associated with the pathophysiological mechanisms.^[2]

Young patients used to be diagnosed in advanced stages, that's why it is mandatory to consider Coats disease as a differential diagnosis when examining a patient with leukocoria. In Colombia, as a developing country, there are no diagnostic reports about the disease in children. This can be explained either by a lack of knowledge of the disease because it remains a rare condition or because there is not enough technology available to clarify the diagnosis. Portable spectral-domain OCT system is being used as an intraoperative tool for differentiating Coats disease from diffuse retinoblastoma and other mimicking conditions. Coats disease is associated with very poor vision (LogMAR vision <1.0) at presentation in a large proportion of cases in all revised case series.^[9]

Different treatment options are available depending on the stage at the moment of diagnosis, being in mild cases, retinal ablative procedures the best option. Those ablative procedures can be application of argon or diode laser photocoagulation or cryotherapy.^[3] Promising results have been reported with intravitreal antivascular endothelial growth factor in moderate cases such as the one exposed by Patel et al.^[10] Nevertheless, in severe cases, as the one presented before options are limited due to the important visual loss. Therefore, interventions tend to preserve the anatomic structure of the eye, in this case, considering it is a young patient looking forward to neuroplasticity and gaining some vision in the affected eye. There is not a universal recommendation for advanced Coats disease.

Several limitations were found in this case. First, there is no 100% certainty of the diagnosis even if findings were highly suggestive; a full genetic study was not performed. There is no clear evidence about the effectiveness of surgical treatment versus enucleation in cases of Coats disease stage 5. However, given the fact that most cases are present in young, previously healthy children, even if visual recovery cannot be achieved, anatomical preservation of the eye may be the most adequate treatment. That is why preservative treatment was chosen in the exposed case report with an appropriate surgical approach.

Conclusion

The diagnostic approach of Coats disease is a challenge, and prompt diagnosis may delay its progression to late stages. Here, we expose a rare case in a female child, not yet reported in Colombia, with an advanced stage of Coats disease where anatomic preservation of the eye was achieved.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that name and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1.	Ciardella AP, Gross N, Angelilli A, Yannuzzi L. Coats' disease in a vegetarian female. Br J Ophthalmol 2004;88:970-1.
2.	Sigler EJ, Randolph JC, Calzada JI, Wilson MW, Haik BG. Current management of coats disease. Surv Ophthalmol 2014;59:30-46.
3.	Perrone S, Rossetti A, Sportiello P, Mirabelli P, Cimatti P, Doro D. Coats' disease: Very long-term outcome after early stage conventional treatment. Open Ophthalmol J 2016;10:22-6.
4.	Coats G. Forms of retinal disease with massive exudation. R Lond Ophthalmol Hosp Rep 1908;17:440-525.
5.	Rugwizangoga B, Mwabili T, Scanlan T, Meyer P, Kitinya J. Coats' disease in Tanzania: First case report and literature review. Afr Health Sci 2014;14:763-8.
6.	Sen M, Shields CL, Honavar SG, Shields JA. Coats disease: An overview of classification, management and outcomes. Indian J Ophthalmol 2019;67:763-71. [PUBMED] [Full text]
7.	Shields JA, Shields CL, Honavar SG, Demirci H. Clinical variations and complications of Coats disease in 150 cases: The 2000 Sanford Gifford memorial lecture. Am J Ophthalmol 2001;131:561-71.
8.	Shields JA, Shields CL, Honavar SG, Demirci H, Cater J. Classification and management of Coats disease: The 2000 proctor lecture. Am J Ophthalmol 2001;131:572-83.
9.	Morris B, Foot B, Mulvihill A. A population-based study of coats disease in the United Kingdom I: Epidemiology and clinical features at diagnosis. Eye (Lond) 2010;24:1797-801.
10.	Patel NA, Berrocal AM, Murray TG, Villegas VM. Advanced Coats' disease treated with intravitreal brolucizumab combined with laser photocoagulation. Am J Ophthalmol Case Rep 2020;19:100815.