Epiretinal neovascular membrane in Macular Telangiectasia type 2: Multimodal imaging diagnosis.

PURPOSE: To characterize an epiretinal neovascular membrane (ERNM) through multimodal imaging in the context of a patient with Macular Telangiectasia type 2 (MacTel) and ipsilateral concomitant ocular ischemic syndrome (OIS). METHODS: Case report, with ultra-wide field (UWF) retinography, fluorescein angiography (FA), swept source optical coherence tomography (ss-OCT), and OCT-angiography (OCTA). Written informed consent for patient information and images to be published was provided by the patient. Approval from the Research Ethics Committee of the Hospital was obtained for publication. CASE REPORT: Yearly follow up of a 51 year-old-female patient with advanced bilateral MacTel showed new punctate hemorrhages in all four quadrants of her right eye (OD). OCTA showed an ERNM in the superficial capillary plexus of the same eye and FA confirmed the ERNM and demonstrated peripheral ischemia. Carotid ultrasound was performed and complete right carotid artery occlusion was confirmed. These findings allowed the diagnosis of an ERNM associated with Mactel and OIS. CONCLUSIONS: Interestingly, this case shows an ERNM diagnosed by multimodal imaging in a patient with advanced MacTel and a concomitant OIS. Mactel is a neurodegenerative disease which in its neovascular stage has been associated with macular neovascular membranes, but also ERNM have recently been described by OCTA.

Surgical Management of Full-Thickness Macular Holes in Macular Telangiectasia Type 2: A Global Multicenter Study.

PURPOSE: To report on macular hole repair in macular telangiectasia type 2 (MacTel2). DESIGN: Global, multicenter, retrospective case series. PARTICIPANTS: Patients undergoing surgery for MacTel2-associated full-thickness macular hole (MTMH). METHODS: Standardized data collection sheet distributed to all surgeons. MAIN OUTCOME MEASURES: Anatomic closure and visual outcomes of MTMH. RESULTS: Sixty-three surgeries in 47 patients with MTMH were included from 30 surgeons. Mean age was 68.1 years, with 62% female, 72% White, 21% East or South Asian, 2% African American, and 2% Hispanic or Latino. Procedures included 34 internal limiting membrane (ILM) peeling alone, 22 ILM flaps, 5 autologous retinal transplantations (ARTs), 1 retinotomy, and 1 subretinal bleb. For ILM peeling, preoperative visual acuity (VA) was 0.667 ± 0.423 logarithm of the minimum angle of resolution (logMAR). Minimum hole diameter (MHD) was 305.5 ± 159.4 µm (range, 34-573 µm). Sixteen of 34 ILM peels (47%) resulted in MTMH closure. At postoperative month 6, VA was stable at 0.602 ± 0.516 logMAR (P = 0.65). VA improved by at least 2 lines in 43% and at least 4 lines in 24%. For ILM flaps, preoperative VA was 0.878 ± 0.552 logMAR. MHD was 440.8 ± 175.5 µm (range, 97-697 µm), which was significantly larger than for ILM peels (P < 0.01). Twenty of 22 ILM flaps (90%) resulted in MTMH closure, which was significantly higher than for ILM peels (P < 0.01). At postoperative month 6, VA improved to 0.555 ± 0.405 logMAR (P < 0.05). VA improved by at least 2 lines in 56% and at least 4 lines in 28%. For ARTs, preoperative VA was 1.460 ± 0.391 logMAR. MHD was 390.2 ± 203.7 µm (range, 132-687 µm). All 5 ARTs (100%) resulted in MTMH closure. At postoperative month 6, VA was stable at 1.000 ± 0.246 logMAR (P = 0.08). Visual acuity improved at least 2 lines in 25%. CONCLUSIONS: Surgical closure of macular holes improved VA in 57% of MTMHs. Internal limiting membrane flaps achieved better anatomic and functional outcomes than ILM peeling alone. Autologous retinal transplantation may be an option for refractory MTMHs. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Subfoveal Nodule Affecting Visual Prognosis in Coats Disease.

PURPOSE: To investigate the characteristics of subfoveal nodules in Korean patients with Coats disease and their association with visual outcomes. METHODS: A retrospective analysis was conducted within the medical records of patients with stage 2B or 3A1 Coats disease, including clinical features, imaging, presence of either a subfoveal nodule or macular fibrosis, and visual outcome. RESULTS: Twelve patients were present with stage 2B or 3A1 Coats disease, and nine patients (75%) presented with subfoveal nodule. Between the group without subfoveal nodule and the group with subfoveal nodule, there were no significant differences in age (mean, 14.0 ± 1.7 years vs. 27.7 ± 21.8 years; p = 0.482), sex (all men), stage of the disease (stage 2B: three patients vs. eight patients, p > 0.999; stage 3A1: none vs. one patient, p > 0.999), extension of retinal exudation (mean, 7.7 hours vs. 4.1 hours; p = 0.209) and peripheral telangiectasia (mean, 3.7 hours vs. 4.2 hours; p = 0.727), and follow-up duration (mean, 65.0 months vs. 46.1 months; p = 0.600). There were significantly more patients with severe visual loss (≤20 / 200) among the patients with subfoveal nodule (none vs. seven patients, p = 0.045), and the cause for severe visual loss was macular fibrosis in all cases. Macular fibrosis developed significantly more frequently in the patients with subfoveal nodule (none vs. seven = patients, p = 0.045). CONCLUSIONS: This study is the first study covering the analysis of subfoveal nodules in Korean patients with Coats disease. The existence of a subfoveal nodule at the initial diagnosis serves as an indicator predicting the development of macular fibrosis and a less favorable visual outcome in the patients with Coats disease. A multicenter study with a larger patient pool and further studies toward the therapeutic approach for the subfoveal nodule and macular fibrosis are needed.

THE LONG-TERM EFFECT OF CYSTOTOMY WITH FIBRINOGEN CLOT REMOVAL FOR A CYSTOID MACULAR EDEMA SECONDARY TO IDIOPATHIC MACULAR TELANGIECTASIA TYPE 1: A CASE REPORT.

PURPOSE: To report the case of a patient with cystoid macular edema secondary to idiopathic macular telangiectasia (MacTel) Type 1, which was successfully treated by cystotomy and en bloc removal of the fibrinogen-rich component of the cystoid lesion. METHODS: An 80-year-old man was referred to our department because of a visual defect in his right eye. His best-corrected decimal visual acuity was 0.7 (Snellen equivalent, 20/30). A fundus examination revealed clustered temporal juxafoveal microaneurysms and foveal cystoid macular edema. The patient refused to undergo conventional treatments, including direct retinal photocoagulation for microaneurysms, intravitreal anti-vascular endothelial growth factor injection, and intravitreal triamcinolone injection. However, he provided consent to undergo cystotomy and en bloc removal of the fibrinogen-rich component of the cystoid lesion. RESULTS: His best-corrected decimal visual acuity was 0.2 (Snellen equivalent, 20/100) just before the surgery. A 27-gauge vitrectomy with internal limiting membrane peeling was performed. Cystotomy was performed during the surgery, and the fibrinogen clot visible in the cystoid cavity was also removed. Cystoid macular edema rapidly disappeared after the surgery. Three years postoperatively, the patient had best-corrected decimal visual acuity of 0.5 (Snellen equivalent, 20/40) at the last medical examination, and the cystoid macular edema had not recurred. CONCLUSION: Cystotomy and en bloc removal of the fibrinogen-rich component of the cystoid lesion could be valid treatment options for cystoid macular edema secondary to MacTel Type 1.

A Novel Approach to Subretinal Fluid Drainage in Coats'-Related Exudative Retinal Detachment.

Laser is effective at treating exudative retinal detachment (ERD) in Coats' disease. However, with severe ERD, the retina may be in contact with the lens. In such cases, laser can result in cataract formation. This case report of two patients treated at an academic medical center for Coats'-related ERD describes a technique of minimally invasive subretinal fluid drainage to create space between the lens and retina to avoid cataract. Transconjunctival unguarded needle drainage allowed for complete treatment of telangiectatic vessels and resulted in favorable anatomical outcomes in the patients. Transconjunctival unguarded needle drainage is a useful technique for treating severe, Coats'-related ERD, when a bullously detached retina is in contact with the lens. [Ophthalmic Surg Lasers Imaging Retina 2022; 53:407-409.].

Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.

Pathogenic variants in the genes encoding serine palmitoyl transferase (SPTLC1 or SPTLC2) are the most common causes of the rare peripheral nerve disorder Hereditary Sensory Neuropathy Type 1 (HSN1). Macular telangiectasia type 2 (MacTel), a retinal disorder associated with disordered serine-glycine metabolism, has been described in some patients with HSN1. This study aims to further investigate this association in a cohort of people with HSN1. Fourteen patients with a clinically and genetically confirmed diagnosis of HSN1 from the National Hospital for Neurology and Neurosurgery (NHNN, University College London Hospitals NHS Foundation Trust, London, United Kingdom) were recruited to the MacTel Registry, between July 2018 and April 2019. Two additional patients were identified from the dataset of the international clinical registry study (www.lmri.net). Ocular examination included fundus autofluorescence, blue light and infrared reflectance, macular pigment optical density mapping and optical coherence tomography. Twelve patients had a pathogenic variant in the SPTLC1 gene, with p.Cys133Trp in 11 cases (92%) and p.Cys133Tyr in one case (8%). Four patients had a variant in the SPTLC2 gene. None of the patients showed clinical evidence of MacTel. The link between HSN1 and MacTel seems more complex than can solely be explained by the genetic variants. An extension of the spectrum of SPTLC1/2-related disease with phenotypic pleiotropy is proposed. HSN1 patients should be screened for visual symptoms and referred for specialist retinal screening, but the association of the two diseases is likely to be variable and remains unexplained.

Unilateral Xanthocoria and Retinal Vascular Anomalies in a 3-Year-Old Boy: Retinoblastoma or Coats Disease?

The authors describe a challenging case of unilateral retinoblastoma in a patient referred for xanthocoria. A 3-year-old boy was referred for unilateral xanthocoria and disordered retinal vasculature, suggestive of Coats disease. Further investigation revealed diffuse subretinal tumor seeding and areas of calcification, consistent with retinoblastoma. Enucleation was performed and histopathology confirmed exophytic retinoblastoma. This case highlights that xanthocoria, although often encountered in patients with Coats disease, can sometimes be associated with retinoblastoma. As such, retinoblastoma should be considered in the differential diagnosis for children with both leukocoria and xanthocoria. [J Pediatr Ophthalmol Strabismus. 2022;59(X):e32-e34.].

Plasma rich in growth factors as treatment for a full-thickness macular hole due to macular telangiectasia type 2.

Full-thickness macular hole is a rare complication of macular telangiectasia type 2, and its treatment is still controversial. A patient with a full-thickness macular hole secondary to macular telangiectasia type 2 underwent vitreoretinal surgery with a plasma rich in growth factors membrane in the macular hole. At the sixth month of follow-up, anatomical and functional improvements were achieved, with no adverse effects. Plasma rich in growth factors is a new option, with advantages due to its biological properties that achieves good results in terms of safety and effectiveness in the surgical treatment of macular hole.

OCT-angiography for diagnosis and response to treatment of subretinal neovascularization secondary to idiopathic macular telangiectasia type 2.

Idiopathic macular telangiectasia type 2 (MacTel 2) is a slow and progressive bilateral condition that affects middle-aged and elderly individuals. Vision loss is generally mild and occurs over the course of many years. The development of sub-retinal neovascularisation (SRNV) can occur late in the disease process, and lead to more dramatic vision loss. A report is presented of 2 cases of MacTel 2 in which optical coherence tomography angiography (OCTA) was essential for the diagnosis of secondary SRNV. The commercially available OCTA Cirrus AngioPlex 5000 platform (Zeiss, Jena, Germany) was used. Subretinal neovascularization was detectable in both cases in OCTA at the level of the deep capillary plexus and the avascular layer. OCTA also allowed us to monitor disease progression and monitor response to anti-VEGF therapy.

Henle Fiber Layer Hemorrhage in Macular Telangiectasia Type 2: Is Right Eye Dominance Coincidence or Consequence?

PURPOSE: To summarize all reported cases of Henle fiber layer (HFL) hemorrhage in the absence of subretinal neovascularization (SRNV) in patients with macular telangiectasia type 2 (MacTel2) and to propose a mechanism for the right-sided predominance of this unique presentation. DESIGN: Perspective. METHODS: Collection, review, and analysis of all cases in the literature and in the authors' databases of HFL hemorrhage in MacTel2, including analysis of baseline and follow-up multimodal retinal imaging findings of selected cases. Elucidation of the complex interplay of systemic venous pressure with the deep retinal capillary plexus and hypothesis regarding the right-sided predilection of HFL hemorrhage complicating MacTel2. RESULTS: Ten patients presented with a unilateral, characteristic radial macular hemorrhage within the HFL that affected only the right eye in all cases. Absence of SRNV was confirmed by fluorescein angiography and/or optical coherence tomography angiography. The hemorrhage resolved spontaneously in at least 7 of the 10 eyes. The HFL hemorrhage may plausibly be explained by dysfunction of the deep capillary plexus in MacTel2 combined with an acute rise in central venous pressure, for which the right side may be at increased risk. CONCLUSIONS: HFL hemorrhage can complicate MacTel2 in the absence of SRNV, and the radial pattern of blood affecting only the right eye is remarkable. The right eye predominance may be multifactorial in etiology. Related factors may include the right-sided predilection of MacTel2 and/or increased right-sided dural sinus drainage related to normal anatomical variation.

IMPAIRMENTS OF L-CONE/M-CONE AND S-CONE-MEDIATED COLOR DISCRIMINATION IN MACULAR TELANGIECTASIA TYPE II.

PURPOSE: To characterize red-green and tritan color discrimination in eyes with macular telangiectasia Type II (MacTel). METHODS: Color discrimination was assessed by metameric matching methods using an Oculus MR Anomaloscope. Red-green color discrimination was assessed using the Rayleigh equation, and tritan color discrimination was assessed using the Moreland equation. Results were expressed as anomalquotient (AQ) and tritanomalquotient (TAQ) units, respectively. RESULTS: Seventeen eyes with MacTel were compared with 16 control eyes with normal vision. Twelve eyes with MacTel demonstrated abnormal color matches; except for two eyes with red-shifted Rayleigh matches, the primary abnormality evident was reduced color discrimination. On average, Rayleigh matching ranges were significantly widened in MacTel (0.518 ± 0.066 AQ units) compared with normal (0.14 ± 0.03 AQ units; P < 0.0001). Similarly, Moreland matching ranges were significantly wider (0.794 ± 0.109 TAQ units) than normal control subjects (0.204 ± 0.070 TAQ units; P < 0.0001). Losses in color discrimination did not correlate significantly with the best-corrected visual acuity, although Moreland matching ranges were significantly correlated to Rayleigh matching ranges. CONCLUSION: MacTel results in a combined acquired red-green and tritan color vision deficiency. A minority of eyes demonstrated red-shifted Rayleigh matches, consistent with decreases in cone photopigment optical density.

Coats' disease - Prognostic factors for globe and vision salvage in children, a long-term experience.

PURPOSE: Coats' disease is associated with poor outcomes, and there are limited studies on long-term outcomes of Coats' disease. The purpose of our study is to identify various predictive factors to help in prognosticating the treatment outcomes in advanced Coats' disease in children. METHODS: This is a retrospective case series from a single tertiary eye care center of children (<18 years) diagnosed with coat's disease. Sixty-seven patients with Coat's disease were identified from the medical records from 2009 to 2020. Patients' demographic data, clinical presentation, stage, extent of involvement, detailed treatment history, clinical sequelae post-treatment (including complications and anatomical and functional outcomes) were noted. Binary logistic regression was performed to correlate the predictive factors for anatomical and functional improvement. RESULTS: Of the 67 patients, 51 eyes of 51 patients were included in the study. The male to female proportion was 2.2. Mean age at presentation was 4.98 ± 3.55 years (range: 2 months-15 years). Mean duration of follow-up was 31.53 ± 26.38 months. Overall, our globe salvage rate was 92.2%. We found that vitreoretinal fibrosis (P < 0.001), subretinal gliosis (P < 0.001), vitreous hemorrhage (P = 0.02), tractional or combined retinal detachment (P < 0.001), foveal scar (P < 0.006), and cataract (P < 0.001) to be important factors to affect the outcome. CONCLUSION: Advanced stage of presentation (stage 3B and above), diffuse involvement, cataract, vitreoretinal fibrosis (preretinal and subretinal), vitreous hemorrhage, tractional or combined retinal detachment, and anterior hyaloid proliferation are poor prognostic factors for globe salvage in advanced disease. Subretinal gliotic nodule or scar and lack of visual rehabilitation suggest poor functional outcomes.

TWO-YEAR RESULTS OF INTRAVITREAL INJECTIONS OF AFLIBERCEPT IN COATS DISEASE: A CASE REPORT.

PURPOSE: To report long-term results of treatment with intravitreal injections of aflibercept in a newly diagnosed case of Coats disease. METHODS: An 18-year-old man presented to the retina clinic of our hospital complaining of blurred vision in the right eye for the past 3 months. His past medical and ocular history were unremarkable. The best-corrected visual acuity was 20/200 in the right eye and 20/20 in the left eye. Fundoscopy in the right eye revealed extensive macular edema with a circinate ring of hard exudates in the posterior pole temporally to the macula. Optical coherence tomography demonstrated macular edema with subretinal fluid. Peripheral telangiectasias and light bulb aneurysms in the inferior temporal arcade as well as in the nasal far periphery were found in the right eye in fluorescein angiography, confirming the diagnosis of stage 2B Coats disease. The left eye was normal. RESULTS: The original therapeutic strategy proposed was antivascular endothelial growth factor injections in the right eye, followed by laser photocoagulation. However, the patient did not consent to laser treatment and was treated with aflibercept monotherapy with 8 monthly intravitreal injections of aflibercept, followed by 6 injections every 2 months for a total of 14 injections over a period of 2 years. The best-corrected visual acuity in the right eye improved to 20/25 while optical coherence tomography imaging revealed significant decrease in retinal thickness with resolution of macular edema, and fluorescein angiography demonstrated prominent regression of aneurysms and leakage. CONCLUSION: To the best of our knowledge, this is the first case treated with aflibercept monotherapy, suggesting the significant role of vascular endothelial growth factor in vascular permeability in Coats and supporting the rationale that antivascular endothelial growth factors are a valuable therapeutic option for Coats disease.

Rhegmatogenous retinal detachment in Coats' disease: a case report.

BACKGROUND: Coats' disease was originally defined as a unilateral idiopathic exudative retinopathy in young males, characterized by abnormal retinal vascular telangiectasia with intraretinal and subretinal lipid exudation. The retinal detachment is usually exudative. Herein, we describe a case of rhegmatogenous retinal detachment with detectable retinal break in a patient with Coats' disease. CASE PRESENTATION: A 15-year-old Indo-Aryan male patient presented with sudden painless diminution of vision in his right eye of 4 days duration. Upon examination, the anterior segment in both eyes and left fundus was within normal limits. Dilated fundus evaluation of the right eye revealed telangiectasia of the retinal vessels, with subretinal exudation in superotemporal and superonasal quadrants and presence of subretinal fluid in the superotemporal area extending into fovea. There was also presence of single flap horseshoe tear in the superotemporal quadrant at around the 10 o'clock position in the equatorial region, with no secondary changes. The retina was reattached with encircling band buckle combined with vitrectomy and silicon oil tamponade. Seven months post vitrectomy, lenticular opacification developed, for which he underwent silicon oil removal, along with lens aspiration and implantation of foldable intraocular lens. Over the period of 1 year, his best corrected visual acuity improved from 6/60 to 6/18 in the affected eye at the last follow-up visit. The recovery was uneventful following the subsequent surgery. CONCLUSION: Coats' disease has a remarkable diversity in clinical presentation and morphology. The disease can also present with an underlying break, which may not be attributed to any iatrogenic modality. The treatment modalities in coats' disease should be tailored individually due to the low incidence of the disease and the great variation in severity upon presentation. Prompt management restores the best possible anatomical outcome and maintains good vision.

Does size of telangiectasia on optical coherence tomography angiography influence vision in eyes with type 2 macular telangiectasia?

PURPOSE: To study the influence of dimensions of macular telangiectasia (MacTel) on enface optical coherence tomography angiography (OCTA) on vision and clinical parameters in eyes with MacTel type 2. METHODS: MacTel was classified based on OCTA location, i.e. either temporal to the fovea (grade 1), or spread nasally (grade 2), or circumferentially (grade 3), or the presence of neovascular-like tissue in the outer retina-choriocapillary complex (ORCC) (grade 4). On enface images, the maximum dimensions of the MacTel in the deep plexus were noted using calipers by a single experienced observer. RESULTS: Ninety-eight eyes of 49 patients with MacTel with a mean visual acuity was 0.46 + 0.26 logMAR and mean macular thickness of 202 ± 132 µ were included. Based on OCTA, grade 3 MacTel (n = 35, 36%) was the commonest followed by grade 4 (n = 28, 29%). The mean maximum vertical diameter of the MacTel was 2019 + 753 µ, and every 500 microns increment in vertical diameter of the MacTel was associated with a half-line drop in vision (95%CI = 0.005 to 0.08 logMAR, P = 0.03). Vision gradually reduced with increment in OCTA grades of MacTel from grade 1 to 3; however, the trend was not maintained in grade 4 MacTel, which showed better vision and lesser degenerative cysts. CONCLUSION: Larger telangiectasias were associated with significantly lower vision in MacTel. Eyes with deeper telangiectasia involving ORCC have better vision and evidence of far lesser neurodegeneration than type 3 disease, suggesting that this may not be part of the continuum and does not represent neovascularization.

Vitrectomy and external drainage of subretinal fluid containing high concentration of vascular endothelial growth factor for advanced coats disease.

This study investigated the surgical outcomes of Coats disease and the role of external drainage (XD) of subretinal fluid (SRF). The study is a multicenter retrospective interventional case series of 26 consecutive eyes of 26 patients who underwent surgeries for advanced Coats disease with retinal detachment. Main outcomes measured were: 1) comparison of complete SRF resolution with or without XD, and 2) variables that were associated with functional postoperative best-corrected visual acuity (BCVA) defined as BCVA of 0.1 or better, 3) intraocular vascular endothelial growth factor (VEGF) levels. Complete SRF resolution was achieved in all 14 eyes in which XD had been performed and in 75% of 12 eyes in which XD had not been performed (P = .03). Multivariable logistic regression analysis revealed that initial BCVA was the only variable associated with functional postoperative BCVA (odds ratio 3.24, 95% CI 0.93-11.33; P = .04). Markedly elevated VEGF levels were noted in the SRF compared with those in the vitreous humor (49,760 ± 52,990 vs. 707 ± 611 pg/mL, P = .03). XD seems to provide better anatomical success than without XD in the treatment of advanced Coats disease as XD could effectively eliminate substantial amount of VEGF in the SRF.

Internal limiting membrane graft in full-thickness macular hole secondary to macular telangiectasia type 2.

We present a case report of an autologous internal limiting membrane (ILM) graft transposition technique in a 60-years-old female patient who with a full-thickness macular hole (FTMH) secondary to idiopathic macular telangiectasia type 2 (MacTel type 2). To our knowledge, our case is the first report of ILM graft transposition to treat persistent FTMH secondary to MacTel type 2. MacTel type 2 is an acquired disease characterized by macular capillary abnormalities and retinal neurodegeneration. FTMH is an infrequent complication of MacTel type 2. Pars plana vitrectomy (PPV) with ILM peeling and gas endotamponade is the standard treatment of FTMH to help restore macular anatomy and visual function. The technique of autologous ILM graft transposition is a useful alternative to repair large, persistent macular holes that have failed to close with previous ILM peeling. In the present case, our patient with persistent FTMH secondary to MacTel type 2 after the previous standard macular hole surgery was admitted to our clinic. We performed 23-gauge PPV with extramacular ILM peeling and ILM graft transposition into the macular hole. 2 months after the surgery, her visual acuity had improved and anatomic closure of the FTMH was observed. In our opinion, ILM grafting might support reorganization of the retinal structure that has been affected by Muller cell degeneration.