Coats Disease Research Articles

AN EIGHT-YEAR RETROSPECTIVE STUDY OF THE ETIOLOGIES, CLINICAL CHARACTERISTICS, AND VISUAL OUTCOMES OF PEDIATRIC LAMELLAR MACULAR HOLE.

To explore the etiologies, characteristics, and prognosis of lamellar macular hole (LMH) in pediatric patients. A consecutive series of 59 patients (62 eyes) aged <16 years with MHs (lamellar and full-thickness) treated from 2013 to 2021 in a tertiary center was reviewed. Data collected included demographic and clinical characteristics, management, and outcomes of patients presenting with LMH. Twelve eyes (19.4%) of 11 children had LMH. Seven patients were male, with an average age of 6.9 years. The primary pathologies included X-linked retinoschisis in six eyes (50%); familial exudative vitreoretinopathy in two (16.7%); and ocular toxocariasis, Coats disease, persistent hyperplastic primary vitreous, and idiopathic LMH with associated lenticonus in one eye (8.3%) each. Four eyes (36.4%) showed tractional appearance and seven (63.6%) degenerative. All degenerative LMH showed ellipsoidal zone defect, significantly higher than that in the tractional group (25%, 1/4) ( P = 0.024). Five eyes achieved closed LMH and limited visual gain, four underwent surgery, and one closed spontaneously. X-linked retinoschisis was the most frequent primary cause in pediatric LMH. Two types of LMH can be classified: tractional and degenerative. The latter showed a higher rate of ellipsoidal zone defect. Vision improved after LMH closed, regardless of surgery or spontaneous closure.

Unusual anterior and posterior segment features of coats disease.

To report the clinical course and management of unusual anterior and posterior segment features of Coats disease and their relation to the age of the patients to increase the awareness towards these rare clinical features rarely described in the current literature. A retrospective descriptive review of 45 eyes of 45 patients affected by Coats disease was conducted at the Retinoblastoma Referral Center and Ophthalmology Unit of the University of Siena in Italy analyzing data from 2000 to 2022. Medical records and images were revised to find some cases presenting unusual anterior and posterior segment features in patients affected by Coats disease.We identified therefore 4 unusual clinical conditions: retinal macrocysts, anterior chamber cholesterolosis, fovea-sparing Coats disease and secondary vasoproliferative tumor. Two patients presented with retinal macrocyst (2/45 = 4.4%), one with anterior chamber cholesterolosis (1/45 = 2.2%), two with fovea sparing Coats disease (2/45 = 4.4%) and one with vasoproliferative tumor associated (1/45 = 2.2%) for a total of six (6/45 = 13.3%) patients manifesting unusual anterior or posterior segment features in Coats disease. Unusual anterior and posterior segment features of Coats disease such as retinal macrocyst and anterior chamber cholesterolosis have been more frequently reported in younger children while fovea-sparing and vasoproliferative tumors have been more commonly described in older patients. Age is then a strong prognostic marker which allows to distinguish two different phenotypes of Coats disease: patients younger and older than 3 years old with more aggressive and milder phenotype respectively.

Long-term efficacy and complications of intravitreal anti-vascular endothelial growth factor agents combined with ablative therapies in juvenile Coats disease: a five year follow-up study.

To evaluate the long-term safety and efficacy of adjuvant intravitreal anti-VEGF therapy in juvenile Coats disease. This retrospective, observational study included a total of 62 eyes in 62 pediatric patients with juvenile Coats disease treated with intravitreal anti-VEGF agents followed for a mean of 67.08months (ranged from 60 to 93months). All affected eyes were managed initially with one session of ablative treatment plus adjuvant intravitreal anti-VEGF agent (0.5mg/0.05ml ranibizumab or conbercept). Ablative treatment was repeated if telangiectatic retinal vessels were not completely regressed or recurred. Anti-VEGF therapy was repeated if subretinal fluid or macular edema still existed. Treatments above were repeated every 2 to 3months. We reviewed clinical and photographic records of patients including the demographics, clinical characteristics and interventions. At final visit, all 62 affected eyes had partially or completely disease resolution; none progressed to advanced stage namely neovascular glaucoma or phthisis bulbi, respectively. No ocular or systemic side effects related to intravitreal injections were observed during follow-up. In terms of 42 affected eyes that could cooperate with visual examination, best corrected visual acuity improved in 14 (14/42, 33.3%) eyes, stabled in 25 (25/42, 59.5%) eyes, and worsened in 3 (3/42, 7.1%) eyes. In the field of complications, 22 (22/62, 35.5%) eyes developed cataracts; 33 (33/62, 53.2%) eyes developed vitreoretinal fibrosis, of whom 14 (14/33, 42.4%) eyes in the subgroup of stage 3B developed progressive TRD; 40 (40/62, 64.5%) eyes developed subretinal fibrosis. Multivariate regression analysis showed increased clinical stage may be associated with the development of vitreo- and subretinal fibrosis (adjusted odds ratio:16.77,17.59; 95% CI:4.50-62.53, 3.98-77.86, respectively, all P < 0.001). Adjuvant intravitreal ranibizumab or conbercept combined with ablative therapies may be a long-term safe and effective treatment for juvenile Coats disease.

Coats’ Disease: Pathogenesis, Diagnosis, and Treatment

Coats disease is an idiopathic nonhereditary condition retinal vascular disorder characterized by retinal telangiectasia with intraretinal and/ or subretinal exudation. Unilateral involvement in young males is the typical presentation with most cases being diagnosed in the first and second decade of life and, if untreated, can lead to total retinal detachment and secondary glaucoma, sometimes requiring enucleation. The most common presenting complaints include decreased vision, strabismus, and leukocoria. This article describes the clinical features, pathophysiology, classification and staging, complications, differential diagnosis, and the management of Coats disease.

An Unusual Optical Coherence Tomography Appearance in Coats Disease.

Tekin, Kemal M.D Assoc Prof, FEBO1; Freund, K Bailey2,3; Teke, Mehmet Yasin M.D. Prof4 Author Information

ABNORMALITIES IN THE RETINAL CAPILLARY PLEXUSES IN COATS DISEASE IN ADULTHOOD ON OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

To describe and quantify the abnormalities of the retinal capillary plexuses using optical coherence tomography angiography in Coats disease. Retrospective study. Eleven eyes of 11 patients with Coats disease (9 men and two women aged 32-80 years) compared with nine fellow eyes and 11 healthy control eyes. Horizontal bands of contiguous 3 × 3 mm optical coherence tomography angiograms of the superficial vascular plexus and deep capillary complex were acquired from the optic disk to 6 mm temporal to the fovea, through areas with telangiectasia visible on fluorescein angiography in 9 cases. The vascular density was significantly decreased in both plexuses in eyes with Coats disease compared with normal and fellow eyes within the 6 mm temporal to the fovea (superficial vascular plexus: 21.5 vs. 29.4%, P = 0.00004 and vs. 30.3%, P = 0.00008; deep capillary complex, 16.5 vs. 23.9%, P = 0.00004 and vs. 24.7%, P = 0.00008, respectively). The fractal dimension was also significantly decreased in eyes with Coats disease (superficial vascular plexus: 1.796 vs. 1.848 P = 0.001 and vs. 1.833, P = 0.003; deep capillary complex: 1.762 vs. 1.853, P = 0.003 and vs. 1.838, P = 0.004, respectively). Retinal plexuses' vascular density was decreased in Coats disease, including in areas with no visible telangiectasia.

Further Evidence Against Bilateral Manifestation Of Coats Disease In Optical Coherence Tomography Angiography of the Macula.

Recent studies have questioned the traditional view, which regards Coats disease as a strictly unilateral entity. Applying optical coherence tomography angiography (OCTA), this prospective, monocentric study investigates quantitative capillary changes of the macula associated with Coats disease. 24 eyes (4 untreated, 8 pre-treated) of 12 patients with stage 2 Coats disease (age range: 9 - 61 years) and 15 eyes of healthy, age-matched controls from the University of Muenster Medical Center, Germany received macular OCTA measurements of the superficial (SCP), deep (DCP) and choriocapillary (CC) capillary plexus. Flow density (FD) and parameters related to the foveal avascular zone (FAZ) were compared between Coats eyes and fellow eyes, as well as between fellow eyes and control eyes. Additional subanalyses investigated changes based on disease stage. FD did not differ between fellow eyes of Coats disease patients and control eyes in any of the parameters investigated. Comparison of Coats eyes to their respective fellow eyes revealed Coats disease to be associated with lower FD in SCP, DCP and CC regions, irrespective of disease stage (all p < 0.03). There were no noticeable differences regarding the size or symmetry of the FAZ. In light of the recent discussion around the unilateral character of Coats disease, this trial provides evidence against a bilateral presentation of vascular changes in the macula.

Optical Coherence Tomography and Optical Coherence Tomography Angiography in Pediatric Retinal Diseases

Indirect ophthalmoscopy and handheld retinal imaging are the most common and traditional modalities for the evaluation and documentation of the pediatric fundus, especially for pre-verbal children. Optical coherence tomography (OCT) allows for in vivo visualization that resembles histology, and optical coherence tomography angiography (OCTA) allows for non-invasive depth-resolved imaging of the retinal vasculature. Both OCT and OCTA were extensively used and studied in adults, but not in children. The advent of prototype handheld OCT and OCTA have allowed for detailed imaging in younger infants and even neonates in the neonatal care intensive unit with retinopathy of prematurity (ROP). In this review, we discuss the use of OCTA and OCTA in various pediatric retinal diseases, including ROP, familial exudative vitreoretinopathy (FEVR), Coats disease and other less common diseases. For example, handheld portable OCT was shown to detect subclinical macular edema and incomplete foveal development in ROP, as well as subretinal exudation and fibrosis in Coats disease. Some challenges in the pediatric age group include the lack of a normative database and the difficulty in image registration for longitudinal comparison. We believe that technological improvements in the use of OCT and OCTA will improve our understanding and care of pediatric retina patients in the future.

Teaching Neuro Images : Coats disease revealing facioscapulohumeral muscular dystrophy

A 21-year-old Brazilian woman presented with mild facial muscle weakness, scapular winging and an asymmetric shoulder girdle, and peroneal weakness. Medical history disclosed mildly symptomatic Coats disease (CD) (figure). Muscle MRI studies were highly suggestive of facioscapulohumeral muscular dystrophy type 1 (FSHD1) (figure) and genetic testing confirmed this diagnosis.

Навигационная лазерная коагуляция сетчатки при болезни Коатса у взрослых (клинический случай)

Purpose. To analyze the results of retina selective focal laser coagulation in adults Coats' disease on clinical case. Material and methods. A topographically-oriented laser treatment was performed on a patient with a rare form of unilateral Coats disease complicated by retinal edema using a modern navigation laser system «NAVILAS» and multimodal visualization. The follow-up period was 6 months. Results. Using the complex of modern diagnostic methods, the multiple vascular anomalies was revealed. Due to the selective laser coagulation the most identified macroaneurysm`s regression and exudation`s resorption with subsequent stabilization of visual functions during the observation period was achieved. Conclusion. The combined approach with modern imaging techniques and navigational planning of laser surgery makes it possible to informatively identify and accurately perform the treatment. Keywords: Coat's retinitis, vascular malformations, subretinal exudates, telangiectasia, focal laser coagulation, navigational laser surgery

Clinical manifestation, course and treatment results of Coats disease in children

Purpose: to analyze the clinical manifestations, course, and results of treatment of Coats disease in children. Materials and methods. We performed a retrospective analysis of medical records of 59 patients with Coats retinitis (83 % were boys) who had been comprehensively examined and treated between 2018 and 2021. After the diagnosis was verified, the children were hospitalized for treatment. Retinal laser coagulation was performed on 61 eyes, angiogenesis inhibitors were administered on 1 eye, and 5 eyes received microsurgical interventions. Results. At the time of disease detection, the children’s age varied from 1 to 16 years. In 97 % of cases, the process was unilateral. An improvement of the anatomical condition and the eye-preserving effect were achieved in 87 %. Visual acuity could only be increased in 19 eyes (31.1 %), all with the initial or the advanced stages of Coats retinitis. Proceeding from our experience, the analysis of polymorphism of clinical manifestations, functional prognosis and differentiated approach to treatment depending on the prevailing clinical symptoms, we suggest a new variant of clinical classification of Coats retinitis. Conclusion. In order to ensure a timely diagnosis of the disease, a very thorough examination of patients in the first decade of life is required. Only an early diagnosis and timely treatment can help achieve not only an eye-preserving effect but also functional results.

Efficacy of Intravitreal Anti Vascular Endothelial Growth Factor Injection Compared to Focal Therapy in Pediatric Patients with Coats Disease

Introduction: Coats disease is a retinal vascular disorder that may lead to progressive exudative retinal detachment. The standard regiment of treatment is focal therapy. However, its effectiveness may decrease when more than two quadrants of the retina exhibit vascular abnormalities. Thus, recent studies tried to use anti vascular endothelial growth factor (anti-VEGF) as therapy for the vascular problems. Aims: Comparing the efficacy between anti-VEGF injection and standard therapy regiment such as focal laser therapy. Methods: Literature searching was conducted through PubMed, ScienceDirect, Google Scholar, ProQuest, and SpringerLink. Search terms included "Coats’ Disease" and mesh terms of “Anti- VEGF". The efficacy is assessed based on Best-Corrected Visual Acuity (BCVA) and improvement in fundus manifestations. Results: All of the studies that conducted primary intravitreal anti-VEGF treatment were followed by necessary ablative treatment. These studies, such as by Yang Q and Zheng XX, et al. showed remarkable improvements in both visual acuity and anatomical outcomes. Laser therapy also gained satisfactory result in upgrading clinical stages, even though some complications including subretinal fibrosis, cataract, and vitreous hemorrhage were reported. A comparative study by Ray R, et al. noted that group undergoing anti-VEGF might require longer treatment sessions despite possible benefits. Conclusion: Anti-VEGF agents can be used as neoadjuvant in standard therapy. It did not reduce the time for full treatment, but the resolution of disease was seen in the most severe cases treated with combination therapy.

Initial Experience With Biosimilar Bevacizumab-bvzr For Intravitreal Use in Children: A Case Series and Literature Review.

We report our initial experience with intravitreal bevacizumab-bvzr, a bevacizumab biosimilar approved by the US Food and Drug Administration in 2019 and recently introduced by our institution for off-label ophthalmologic use in children. This was an Institutional Review Board-approved single-institution retrospective case series of pediatric patients 21 years or younger who received at least one intravitreal injection of biosimilar bevacizumab-bvzr. Twelve eyes of 9 patients were identified as having received intravitreal bevacizumab-bvzr, with a total of 13 injections performed. Indications for injection included retinopathy of prematurity (7/13), choroidal neovascularization (3/13), retinal vein occlusion (2/13), and Coats disease (1/13). Following injection of bevacizumab-bvzr, all patients experienced a positive clinical response. No occurrences of postinjection inflammation, intraocular pressure anomalies, or endophthalmitis were observed with a median follow-up of 18 weeks. In the absence of controlled studies, this case series supports the use of intravitreal bevacizumab-bvzr as an anti-vascular endothelial growth factor therapy option, including in the pediatric population and resource-poor settings. [Ophthalmic Surg Lasers Imaging Retina 2023;54:84-88.].

Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy

Coats disease (OMIM 300216) is a form of hereditary retinal dystrophy, which occurs due to congenital abnormality of retinal vessels and features unilateral exudative vitreoretinopathy. Coats disease mostly occurs sporadically; its genetic cause is still undetermined. Molecular genetic research including whole exome sequencing by the NGS method was used to define a genetic cause of the observed phenotype. Two heterozygous variants in different genomic loci associated with other forms of hereditary retinal dystrophy were detected, a rare variant in the HMCN1 gene c.9571C>T, p.(Arg3191Cys), and a known pathogenic variant in the NPHP4 gene c.2930C>T, p.(Thr977Met). The HMCN1 gene is responsible for dominant age-related macular degeneration (OMIM 603075), pathogenic variants in the NPHP4 gene cause recessive Senior-Løken syndrome 4 (OMIM 266900). These genes encode the proteins that are involved in the regulation of integrity of the blood-retinal barrier in the vascular endothelium (NPHP4) and retinal pigment epithelium (HMCN1). The identified mutation in the NPHP4 gene could lead to decreased function of the NPHP4 protein and contribute to the development of retinal degeneration, potentially of oligogenic nature.

Pediatric retinal vascular disorders: From translational sciences to clinical practice.

Pediatric retinal vascular diseases are a spectrum with overlapping phenotypes and related genes. Retinal vascular development is biphasic. Vasculogenesis is responsible for the formation of primordial vessels leading to the four major arcades in the posterior retina. Angiogenesis, which is vascular endothelial growth factor dependent, is responsible for the formation of new vessels through budding from existing vessels, forming the peripheral vessels, increasing the capillary density of the central retina, and forming the superficial and deep capillary plexus. This process is controlled by WNT signaling, which is important for cell proliferation, division, and migration. Disorders of WNT signaling, such as familial exudative vitreoretinopathy (FEVR), have overlapping clinical findings. Conversely, pathogenic variants in some of the FEVR-related genes are reported in conditions such as retinopathy of prematurity (ROP), persistent fetal vasculature, and Coats disease. The various overlapping features and underlying genetic basis in the pathogenesis of pediatric retinal vascular developmental diseases suggest that genetic variants may provide a framework or a background for these conditions, upon which further insults can affect the development at any phase (such as prematurity and oxygenation in ROP), influencing and determining the final phenotype.

Exudative Retinal Detachment in Nigerians: Demographics and Causes.

Exudative retinal detachment (ERD) is a rare type of retinal detachment (RD), and information on its causes and presentation in Nigerians and Black Africans is scarce. To report the prevalence, vision at presentation, and causes of ERD in a cohort of RD patients. A prospective, multicentre, hospital-based study. We examined consecutive eyes diagnosed with ERD in ophthalmic patients seen within 1 year in four ophthalmic hospitals in Nigeria. The patients had a complete eye examination, including visual acuity, intraocular pressure measurement, slit lamp examination of the anterior segment, dilated fundus examination, and other ancillary investigations. Statistical analysis was done using SPSS version 22.0. Nine out of 237 patients were diagnosed with ERD, giving a hospital-based prevalence of 3.8% of RDs. The mean age of patients was 45.8 ± 21.6 years (6 months-80 years), male:female = 2:1. ERD was bilateral in one patient and unilateral in eight patients. There was no gender association (P = 0.84), but systemic disease was associated with a risk of ERD (P = 0.001). Five out of 9 (55.6%) patients had an associated systemic disease. The systemic diseases include two patients (40%) who had chronic renal failure, two patients (40%) who had systemic hypertension, and one patient (10%) who had lung cancer. Other ocular causes of ERD include post endophthalmitis, coats disease, and age-related macular degeneration in one eye each. 80 % of eyes were blind at presentation. ERD is a rare form of RD in Nigerians and is associated with systemic diseases. There are inflammatory, neoplastic, vascular, and degenerative causes of ERD. At presentation, most eyes are blind. Early presentation will be beneficial in salvaging vision. Also, awareness of the occurrence and causes of ERD should be created amongst eye care practitioners.

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

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

Photocoagulation for retinal hemangioblastoma in Von Hippel-Lindau disease

Introduction. Von Hippel?Lindau disease is a hereditary, autosomal dominant, tumor syndrome with a predisposition to developing various benign and malignant tumors. Retinal hemangioblastoma is often the presenting manifestation. We report a case of Von-Hippel?Lindau disease in a 13-year-old girl with bilateral eye involvement. Case outline. The patient was referred to the Eye Clinic, University Clinical Center of Serbia, with a diagnosis of Coats disease. Clinical examination revealed that best corrected visual acuity was 20/20 on her right eye, while her left eye showed counting fingers at 20 cm distance. Dilated fundoscopy of the right eye revealed multiple tortuous feeding vessels leading to orange-reddish, sharply demarcated multiple lesions on the far periphery of the upper retina, corresponding to retinal hemangioblastoma. the left eye showed edematous optic nerve head, tortuous retinal vessels, exudates, and retinal detachment including macula. Considering that the patient had multiple bilateral retinal hemangioblastomas and that her father had pathohistologically proven brain hemangioblastoma and numerous visceral tumors, Von Hippel?Lindau disease was assumed. Focal argon laser photocoagulation was performed in the region of all visible vascular tumors and feeding vessels in the right eye. The patient?s visual acuity remained unchanged five months after the disease detection. Conclusion. The importance of education about dominant inheritance pattern of Von Hippel?Lindau disease cannot be overemphasized. Role of an ophthalmologist is critical in early diagnosis of both retinal hemangioblastoma and Von Hippel?Lindau disease.

Retracted: Clinical Study of Intravitreal Injection of Anti-VEGF Drugs Combined with Triamcinolone Acetonide in the Treatment of Coats Disease.

[This retracts the article DOI: 10.1155/2022/9911549.].

Vasoproliferative retinal tumors: Clinical presentation and treatment outcome.

To study the clinical presentation and treatment outcomes of patients with vasoproliferative retinal tumor (VPRT) in India. Retrospective study of 50 eyes in 47 patients. Of the 50 eyes, 25 (50%) were primary and 25 (50%) were secondary. Common ocular pathologies related to secondary VPRT included retinal detachment (n = 8, 32%) and Coats disease (n = 7, 28%). Overall, the mean age at presentation was 35 years (range; 3-74 years) and included 30 (64%) males and 17 (36%) females. The lesions were unilateral in 44 (94%) patients. Secondary retinal features included intra/subretinal exudation (n = 41, 82%), vascularity (n = 32, 64%), subretinal fluid (n = 21, 42%), retinal neovascularisation (n = 9, 18%) and vitreous hemorrhage (n = 8, 16%). Thirty-four eyes (68%) underwent cryotherapy, of which 16 eyes (47%) received adjunct intravitreal anti-VEGF (12 eyes) or corticosteroid injection (4 eyes). Primary surgery included vitrectomy with/without encirclage and cryotherapy (n = 12, 24%) and plaque brachytherapy (n = 3, 6%). At last follow-up (mean 9.7 months, range 3-67 months), 42 eyes (84%) had complete tumor regression with no improvement in visual outcomes when comparing presenting and final best corrected visual acuity. Comparing primary versus secondary VPRT, secondary VPRT presented a decade earlier (31 vs 40 years), needed surgical intervention (48% vs 20%), had poor tumor control (72% vs 92%) and worse visual outcomes (p < 0.05). VPRTs commonly present as a unilateral lesions in the adult population with equal prevalence of primary and secondary variants. Compared with primary VPRT, secondary VPRTs require surgical treatment and are associated with poor visual outcome.