Coats Disease Research Articles

The Management of “Coats' Response” in a Patient with X-Linked Retinitis Pigmentosa—A Case Report

The management of exudative retinal detachment in Coats disease can be very difficult with variable results. A case is presented of a 12 year old boy who was diagnosed with X-linked retinitis pigmentosa with an associated “Coat's Response”. The patient had a marked reduction in his left visual acuity due to intragel and subhyaloid haemorrhage as well as exudative retinal detachment. This was managed successfully with vitrectomy and endolaser, resulting in clearance of the haemorrhage and flattening of the retina. In our experience endolaser should be considered as viable therapeutic option in the management of this condition.

Effects of Green Diode Laser in the Treatment of Pediatric Coats Disease

To review the effect of green diode laser ablation therapy on retinal structure and functional outcome in patients with advanced Coats disease. Retrospective, interventional case series. Fourteen eyes of 13 patients with Coats disease were included in this study. Medical records, Retcam photographs (Clarity Medical Systems, Pleasanton, CA), and fluorescein angiograms were reviewed. All patients initially were treated with green diode laser (532 nm) ablation therapy to areas of the retinal telangiectasis associated with exudation. Main outcome measures included visual acuity, treatment outcome defined as complete resolution of telangiectatic lesions or exudative detachment, and macular status at the end of follow-up. Before treatment, 1 eye was at stage 2 (telangiectasis and exudation), 12 eyes were at stage 3 (exudative retinal detachment), and 1 eye was at stage 4 (total retinal detachment with glaucoma). Five eyes had highly detached retina of more than 4 mm. Median age at diagnosis was 51 months (range, 0.5 to 153 months). Median follow-up was 39.5 months (range, 15 to 70 months). Median number of green diode laser photocoagulation treatments was 2 (range, 1 to 5). After laser photocoagulation, 13 (93%) of 14 eyes had no active exudation. Functionally, 4 (29%) of 14 eyes had 20/50 or better visual acuity, 3 (21%) of 14 eyes had 20/60 to 20/200 visual acuity, 5 (36%) of 14 eyes had 20/400 to light perception visual acuity, and 2 (14%) of 14 eyes had no light perception visual acuity. No eye was phthisical or enucleated. Green diode laser therapy can be an effective treatment for advanced Coats disease, even in the presence of a moderate to severely elevated retinal detachment.

Predominant exudative retinopathy in incontinentia pigmenti and clinical course after peripheral laser photocoagulation

Dear Editor, Incontinentia pigmenti (IP) (Bloch-Sulzberger syndrome) is an X-linked condition with dermatological, dental, neurological and ocular abnormalities. Ocular abnormalities occur in 25–77% cases of IP.[1] The characteristic manifestation is a proliferative retinopathy which includes peripheral retinal vascular nonperfusion, preretinal neovascularization, preretinal or vitreous hemorrhage and infantile tractional retinal detachment.[2] In contrast, an early presentation of IP as predominant exudative retinopathy is not commonly reported.[3] We report a case of IP with predominant exudative retinopathy and successful resolution after laser photocoagulation. A 50-day-old female infant was referred for ophthalmology examination from pediatric neurology. The infant was born with an uneventful normal delivery at term and a birth weight of 3000 g. The infant had a vesicular rash on extremities at birth and seizures since second day of life. The infant was diagnosed as IP based on the typical skin lesions [Fig. 1a], magnetic resonance imaging (MRI) findings and pathological findings on skin biopsy.Figure 1: (a) Skin lesions on the trunk and the arm; (b) fundus right eye shows abnormally dilated and tortuous posterior pole vessels, exudative retinal detachment and multiple hemorrhages; (c) right eye, 1 month after laser with residual lipid exudates and nasal falciform fold; (d) right eye, 6 months after laser shows nasal falciform fold and submacular scar (arrow)On fundus examination of right eye, there were dilated and tortuous vessels with exudative retinal detachment at the posterior pole [Fig. 1b]. On indirect ophthalmoscopy with scleral indentation, there was 360° peripheral avascular retina with multiple preretinal hemorrhages. The left eye revealed dilation of posterior pole vessels, minimal exudation in posterior pole, few preretinal hemorrhages and peripheral avascular retina. In view of severe vascular abnormalities, the infant underwent bilateral laser photocoagulation of the entire peripheral avascular retina with diode laser (IRIS Medical Oculight SL, 810 nm infrared laser, Iris Medical Inc., Mountain View, CA, USA) (right eye 1123 spots, left eye 925 spots;400 msec, 400 mW). One-week post laser, there was reduction in vascular tortuosity and exudative retinal detachment in the right eye. There was complete resolution of exudative retinal detachment with a nasal falciform fold at 1-month follow-up [Fig. 1c]. The subretinal exudates resolved over a 3-month period with submacular scar. The left eye changes resolved completely without any sequelae. The infant shows a stable clinical course at 6 months [Fig 1d]. The present case had a predominant exudative response in contrast to the usual proliferative retinopathy seen in majority of cases of IP. These unusual findings are similar to a rare case described previously, which postulated these changes as an inflammatory chorioretinitis.[3] The exact etiology of these changes was unknown and the outcome not described. Subsequently, subretinal exudation containing melanin laden macrophages and lipofuscin was documented in eyes enucleated for total retinal detachment in IP.[4] The etiology of the neovascular retinopathy is more clear, which may result due to oxygen insufficiency caused by peripheral retinal non-perfusion.[2] The extensive exudation seen in the present case appears similar to other disorders like familial exudative vitreo-retinopathy and Coats disease with avascular retina and an abnormal capillary bed. Similar to these disorders, laser photocoagulation was successful in resolution of exudation. A previous study reports successful outcome after laser photocoagulation for proliferative retinopathy of IP.[5] In conclusion, exudative retinopathy in IP is uncommon and can be successfully treated with laser photocoagulation of peripheral avascular retina.

The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease

AimThe aim of this study is to assess the role of Frizzled-4 (FZD4) in familial exudative vitreoretinopathy (FEVR) and Coats disease.MethodsTissue samples were collected for DNA extraction and automated DNA...

Atteinte rétinienne et myopathies génétiques

In genetic diseases, association between retinal and muscular involvement is uncommon, quite specific and frequently allows the diagnosis. In this context, three types of retinal involvement have been described: retinitis pigmentosa (RP), pattern retinal dystrophy (PRD) and exudative retinitis resembling Coats disease (CD). The association between RP, PRD and muscle weakness is highly evocative of a mitochondrial disorder. Extra ocular muscles may be affected, but limb girdle or distal weakness can also be present in association or not with symptoms and signs of multisystemic involvement. In a large number of patients suffering from facioscapulohumeral muscular dystrophy (FSHD), retinal vessels telangectasia can be found at the fundoscopic examination. This finding, which corresponds to a developmental abnormality of peripheral retinal blood vessels, is not progressive and remains clinically asymptomatic. Nevertheless, a few patients with FSHD can develop an exsudative retinopathy resembling Coats disease with the risk of the major complication, recurrent retinal detachments. Considering the diagnostic interest and the deleterious consequences that may follow retinal involvement, close collaboration between the neurologist and ophthalmologist is needed in order to establish the diagnosis, detect complications early, and set up appropriate therapies.

A population-based study of Coats disease in the United Kingdom II: investigation, treatment, and outcomes

coats disease is an uncommon form of retinal telangiectasia. We conducted a prospective population-based study of Coats disease in the United Kingdom to provide a more balanced picture. This paper reports the investigations and treatments used for Coats disease and their anatomic and visual outcomes. the study was conducted through the British Ophthalmic Surveillance Unit. All ophthalmologists notifying cases of Coats disease were sent a baseline questionnaire and a follow-up questionnaire after 6 months. in total, 55 baseline and 42 follow-up questionnaires were returned. All cases were unilateral. Ultrasound was performed in 26% of cases, fluorescein angiography in 35%, and examination under anaesthesia in 42% of the cases. Laser photocoagulation was by far the primary treatment modality, used in 92%, with cryotherapy used mainly as a second-line or adjunctive treatment. In more advanced cases with significant retinal detachment, laser photocoagulation combined with pars plana vitrectomy and drainage of sub-retinal fluid can produce anatomic stability and prevent progress to end-stage disease. Intravitreal injections of steroids or VEGF inhibitors are currently of unproven efficacy in Coats disease. Overall, treatment resulted in stabilisation of visual acuity. Anatomic stabilisation or improvement was achieved in virtually all eyes. laser photocoagulation to telangiectatic retinal vessels is the most commonly used treatment for Coats disease. Other treatments are either adjunctive or of unproven efficacy. A realistic treatment goal is to achieve anatomic stability and avoidance of enucleation for painful end-stage disease. Visual improvement is however unlikely.

A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features at diagnosis

coats disease is an uncommon form of retinal telangiectasis. Published case series mostly originate from tertiary referrals centres and may provide a skewed view of disease severity. We conducted a prospective population-based study of Coats disease in the United Kingdom to ascertain the incidence and provide a more representative picture. the study was conducted through the British Ophthalmological Surveillance Unit. This first paper reports the features at presentation; gender, mode of presentation, visual acuity, anterior and posterior segment findings, amount of retinal exudation, and disease staging. a total of 55 eligible cases of Coats disease were identified giving an estimated population incidence of 0.09 per 100.000 of the population. All cases were unilateral and 85% were male. Mean age at presentation was 146 months (median 96 months). The mean age of diagnosis was markedly different with differing mechanisms of presentation. Cases presenting with leucocoria or strabismus presented early whereas subjective visual loss presented much later. A large proportion of eyes (44%) were blind at diagnosis. The great majority of eyes (71%) had 6 or fewer clock hours of retinal exudation. More severe forms/stages of Coats disease were more common in the youngest patients. compared with published studies of Coats disease, we have found milder disease severity at presentation. This is most likely because of the population-based nature of our study reflecting the full disease spectrum. A large proportion of eyes with Coats have poor visual acuity and disease severity is worse in younger patients.

Analysis of changes of ultrasonic image and hemodynamics of retrobulbar blood vessels in Coats disease

To analyze the changes of color Doppler flow imaging (CDFI) and hemodynamics of retrobulbar blood vessels in Coats disease. It was a prospective and self-comparative study in which 18 cases (18 eyes) were included. Axial eye length was measured with A scan. Routine CDFI was performed in all cases. We examined ophthalmic arteries (OA), central retinal arteries (CRA) and posterior ciliary arteries (PCA) by CDFI, and recorded the peak systolic velocities (PSV), end diastolic velocities (EDV), time averaged maximum velocities (TAMX), pulsatility indexes (PI) and resistance indexes (RI) in all cases. Each hemodynamic parameter in the affected eye (21.36 ± 1.19) mm was compared with those in the contralateral normal eye (controls). T-test was used for the estimation of significance of the difference between the diseased and normal eyes. The axial length in diseased eyes was significantly shorter than that of the controls (22.92 ± 1.09) mm (t = 3.617, P < 0.05). The changes of CDFI in diseased eyes included retinal detachment, retinal cyst, subretinal organization, etc. Vitreoretinal traction, intraocular ossification and calcification were uncommon. The PSV (6.96 ± 1.21) cm/s and EDV (1.99 ± 0.36) cm/s in the diseased eyes were significantly lower than the PSV (8.30 ± 1.46) cm/s and EDV (2.48 ± 0.47) cm/s in the control eyes (t = 2.995, 3.476;P < 0.05). No significance difference was present in other hemodynamic parameters between diseased and normal eyes. Coats disease is a congenital disease that may influence the development of the eye. The ultrasonography is helpful for the diagnosis and differential diagnosis in Coats disease. Low perfusion of the central optic artery might exist in Coats disease. The hemodynamics changes in Coats disease require further studies.

Coats disease: clinical findings and prognosis

Abstract Purpose To review the clinical variations and natural course of Coats disease. Methods We reviewed our experience with clinical features, staging and progression of the disease. In 37 consecutive patients, Coats disease was diagnosed in 15 under the age of 4y and in 22 over the age of 4y. All 37 patients had unilateral disease. The referral diagnoses were Coats disease and retinoblastoma. Patients in both groups (&lt;4y and &gt;4y) were classified into Stages 1 to 5. Results 15 out of 37 patients were diagnosed under the age of 4y (mean age 2.1y) and were Stage 4 and 5 at diagnosis. In the older group (&gt;4y – mean age 7.1y) most cases were Stage 2 and 3; only one case was Stage 4. Most cases of the first group (&lt;4y) presented a rapid progression of the disease, while older children with earlier stages have been successfully treated. Conclusion Coats disease is much more aggressive in very young children (&lt;4y). Children diagnosed at an early age present a rapid progression to total exudative detachment, secondary glaucoma and phthisis. One of these cases presented Stage 5 disease at diagnosis with cholesterolosis of the anterior chamber. Older Children present a rather slow progression, a better response to treatment and a better visual prognosis.

Diagnosis of retinoblastoma

Abstract Purpose Retinoblastoma is the most frequent malignant intra ocular tumors in childhood. The incidence is one out of 15000 to 18000 births. The median age at diagnosis is 24 months for unilateral and 12 months for bilateral. The genetic predisposition is autosomal do Methods In 1971 Knudson made the hypothesis that 2 genetic alterations in the same retinal cell were necessary. In bilateral disease there is one germline and one somatic mutation and in unilateral non hereditary, 2 somatic mutations. The Rb1gene is located on chromosome 13 q 1‐4 . The Rb 1 protein is a pocket protein involved in the cell cycle regulation Results Most frequent symptoms are leukocoria and strabismus Later symptoms include heterochromia iridis,rubeosis, buphtalmia, pseudo hypopion, uveitis, inflammatory pseudo tumor and exophtalmia. Diagnosis of retinoblastoma is made by fundus examination. Imaging of the orbits and brain should be performed using MRI if possible. Ultrasonography with B and A scan is also useful as well as the use of Retcam . Differential diagnosis is sometimes easy when there is colobomas ,persistance of hyperplastic primary vitreous ,hamartomas or astrocytomas It can be difficult in cases of advanced Coats disease or when there is diffuse infiltrating retinoblastoma. Conclusion We have made a retrospective study on patients sent for suspicion of retinoblastoma in our institute from January 2003 to December 2005 If we compare this serie to the serie published in the literature we can say that the pourcentage of well diagnosed retinoblastoma is improving. We have found 16% of wrong diagnostics. There was 30% in the serie of Balmer in 1988 and 42% in the serie of Shields in 1991. The most frequent differential diagnosis reported in all series is Coats disease

Analysis of Clinical Misdiagnoses in Children Treated With Enucleation

To evaluate discordant clinical and pathological diagnoses leading to pediatric enucleations over time. All pathology reports of pediatric enucleation specimens (subjects aged 0 to 18 years) from 1960 to 2008 were reviewed. Specimens with discordant clinical and pathologic diagnoses were further analyzed. Formalin-fixed, paraffin-embedded sections of enucleated eyes of any misdiagnosed cases were reevaluated. Of 729 pediatric patients (746 eyes) who had enucleation from 1960 to 2008, 29 patients (4.0%) and 30 eyes (4.0%) had discordant clinical and pathological diagnoses. The misdiagnosis enucleation rate decreased with each respective decade studied, with the highest rate of 6.5% (18 of 276 eyes) in the 1960s and no misdiagnoses from 1990 to 2008. Of the 369 eyes enucleated for the clinical indication of malignancy, 22 eyes (6.0%) were misdiagnosed in that no evidence of malignancy was found on histopathological examination. Of the 377 eyes enucleated for benign clinical indications, 7 cases (1.9%) were found to be malignant by histopathology. Misdiagnoses leading to pediatric enucleation have decreased during the past 5 decades, likely owing to improved diagnostic techniques. Benign and malignant intraocular conditions can simulate each other, especially retinoblastoma, Coats disease, nematode and bacterial endophthalmitis, panuveitis, and persistent hyperplastic primary vitreous.

Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease

Coats disease is characterized by the presence of cholesterol crystals and lipid-laden macrophages in the subretinal space. These cholesterol crystals may rarely be found in the anterior chamber in Coats disease, a phenomenon known as cholesterolosis bulbi. This report describes a patient with advanced Coats disease who presented with anterior chamber cholesterolosis.

MACULAR FIBROSIS IN COATS DISEASE

The purpose of this study was to describe the angiographic features and visual impact of macular fibrosis in patients with Coats disease. This is a single institution retrospective case series. Charts of patients diagnosed with Coats disease between 1973 and 2007 were reviewed. Data collected included patient demographics, treatment method, initial and final logarithm of the minimum angle of resolution visual acuity, photographic findings, angiographic characteristics, and anatomical outcome. Forty-seven patients were identified with adequate imaging and posttreatment follow-up. Average age at presentation was 38 years (4-82 years). Average follow-up was 4.9 years (0-17 years). Macular fibrosis was identified in 11 patients (23%). At presentation, the average logarithm of the minimum angle of resolution visual acuity was as follows: all patients, 0.67; patients with macular fibrosis, 1.14; and patients without macular fibrosis, 0.50 (P = 0.01, 2-tailed Student's t-test). The average posttreatment logarithm of the minimum angle of resolution visual acuity was as follows: all patients, 0.78; patients with macular fibrosis, 0.97; and patients without macular fibrosis, 0.70 (P = 0.26). Macular fibrosis was associated with a pigmented spot at the point of apparent intraretinal vascular anastamosis. Fluorescein angiography showed leakage consistent with neovascularization that appeared to be intraretinal. Macular fibrosis is a common finding in Coats disease, occurring in 23% of our patients. It may be a result of intraretinal neovascularization and is associated with a worse vision outcome.

THE EFFECT OF INTRAVITREAL BEVACIZUMAB IN THE TREATMENT OF COATS DISEASE IN CHILDREN

The purpose of this study was to determine if intravitreal bevacizumab can reduce subretinal exudates and exudative retinal detachment and facilitate the treatment of Coats disease in children. Prospective, interventional, and noncomparative case series of three eyes in three children with Coats disease were studied. All eyes received only intravitreal bevacizumab injection as the primary treatment. Ablative procedures, including cryotherapy, traditional continuous wave laser, or subthreshold diode micropulse laser, for diseased vessels were performed after subretinal fluid totally reabsorbed. One supplementary intravitreal bevacizumab injection was given after ablative procedures on the same day. The changes in pre- and postoperative best-corrected visual acuity were recorded. Serial color fundus photography, optical coherence tomography, and B-scan sonography were performed to measure treatment efficacy. After receiving one to three injections, all three patients had subretinal fluid completely reabsorbed. All patients had one session of subsequent ablative procedures for diseased vessels and supplementary intravitreal bevacizumab injection. No patients had recurrent subretinal fluid. Improved visual acuity was noted in two cases but was not detectable in the other. No ocular or systemic complications related to bevacizumab were noted during the entire course of follow-up. Intravitreal bevacizumab appears to be a well-tolerated treatment for children with Coats disease. A favorable response is observed when compared with other treatment modalities. It has the potential as an adjuvant therapy of vascular ablative procedures to improve final vision and facilitate ongoing treatment.

Morbus Coats

Coats disease is characterized by idiopathic congenital retinal telangiectasis and exudative retinopathy. Mostly young males are affected. The disease is usually unilateral. Visual prognosis varies from full visual acuity to blindness according to the extent of retinal exudation. Retinoblastoma is a major differential diagnosis particularly in small children but other causes of exudative retinopathy must also be considered. Treatment aims include obliteration of the telangiectasis in order to resolve retinal exudation and achieve reattachment of the retina. Therapeutic options comprise laser coagulation or cryotherapy, drainage of subretinal fluid, buckling surgery and pars plana vitrectomy. In more advanced cases with therapy-resistant secondary glaucoma enucleation may be required. More recently, intravitreal administration of VEGF inhibitors has become an option.

RetCam II Fluorescein Angiography to Guide Treatment and Diagnosis of Coats Disease.

Coats disease is a well-described clinical condition featuring peripheral leakage from telangiectatic vasculature, resulting in exudative retinal detachments and exudative deposits. It often affects pediatric patients, requiring examinations and treatments to be performed under anesthesia. It can be difficult to distinguish from retinoblastoma. The RetCam II is a wide-field fundus imaging system that can also obtain intraoperative fluorescein angiography. The case of a 5-year-old girl diagnosed with Coats disease is presented. She presented with an exudative detachment, a submacular nodule, and peripheral telangiectasis. An examination under anesthesia, including angiography, was performed. The angiograph revealed characteristic aneurysms as well as extensive areas of telangiectasis and ischemia not readily visible on examination. The angiogram allowed more diagnostic certainty and guided a more complete treatment than otherwise possible. We propose that fluorescein angiography with the RetCam II system can be a useful tool when examining and treating pediatric patients with Coats disease.

The pediatric retina could be the clue to systemic disease

So what diseases should you think of when you see a child with Coats disease in both eyes? There are numerous pediatric retinal diseases that could imply a systemic disease including albinism, optic disc anomalies, retinal vascular diseases like bilateral Coats disease, vasoproliferative tumors, retinal arterial aneurysms, familial retinal arteriolar tortuosity, sickle cell, thallasemia, incontinentia pigmenti, and retinal vascular tumors and others. What systemic associations should come to mind? The clinical features of these conditions will be reviewed.

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband

Norrie disease (ND) is caused by mutations in the ND pseudoglioma (NDP) gene (MIM 300658) located at chromosome Xp11.4-p11.3. ND is characterized by abnormal retinal vascular development and vitreoretinal disorganization presenting at birth. Systemic manifestations include sensorineural deafness, progressive mental disorder, behavioral and psychological problems, growth failure, and seizures. Other vitreoretinopathies that are associated with NDP gene mutations include X-linked familial exudative vitreoretinopathy, Coats disease, persistent fetal vasculature, and retinopathy of prematurity. Phenotypic variability associated with NDP gene mutations has been well documented in affected male patients. However, there are limited data on signs in female carriers, with mild peripheral retinal abnormalities reported in both carrier and noncarrier females of families with NDP gene mutations. Here, we report a family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe ND phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar to those observed in familial exudative vitreoretinopathy in his carrier mother.

Spontaneous resolution of total retinal detachment in coats disease.

To present a case of a child with total retinal detachment secondary to Coats disease who failed different treatment modalities and then had spontaneous resolution of the retinal detachment years later. Case report. After progressing to total retinal detachment despite multimodality therapy with intravitreal bevacizumab and laser photocoagulation for advanced Coats disease, the patient was watched routinely for almost 2 years. On routine follow-up, he was noted to have complete resolution of the total retinal detachment with a completely flat retina. Resolution of advanced Coats disease with total retinal detachment rarely occurs.

Combined Photodynamic Therapy and Intravitreal Bevacizumab Injection for the Treatment of Adult Coats' Disease: A Case Report

A 68-year-old woman presented with a visual field defect in her right eye. The fundus of her right eye showed multiple telangiectatic vessels, retinal hemorrhages, and subretinal exudates in the inferior peripheral retina. Nine months later, the subretinal exudates extended to the fovea despite treatment with laser photocoagulation. Cryotherapy was not possible at the time because of the posterior location of the retinal telangiectatic vessels. She was treated with a combination of photodynamic therapy (PDT) and intravitreal bevacizumab injection: three injections were given at 2-month intervals. After this combined therapy, her right fundus revealed a significant regression of abnormal retinal vessels and subretinal exudates. A fluorescein angiography showed no leakage from the abnormal retinal vessels. At 9 months after the combined therapy, she was able to maintain a stable visual acuity and visual field. This is the first case report that demonstrates the efficacy of the combined treatment of PDT and intravitreal bevacizumab injection in Coats's disease. This combined therapy is a kind of treatment modality for adult Coats' disease in cases which cryotherapy cannot be employed and are refractory to laser photocoagulation.