Fundus Autofluorescence Imaging in Macular Telangiectasia Type 2: MacTel Study Report Number 9.

PURPOSE: To investigate the role of fundus autofluorescence (FAF) imaging in the diagnosis of macular telangiectasia type 2 (MacTel) and to describe disease-associated FAF patterns and their origin. DESIGN: Cross-sectional multicenter study METHODS: FAF images were collected from the multicenter MacTel Natural History Observation and Registry Study. In a first qualitative approach, common FAF phenotypes were defined and correlated with multimodal imaging. We then evaluated how many eyes showed FAF changes, and temporal vs nasal asymmetry of FAF changes was graded. Finally, 100 eyes of MacTel patients and 100 control eyes (50 normal eyes and 50 eyes with other macular diseases) were combined and 2 masked graders assessed the presence of MacTel based on FAF images alone. RESULTS: The study included 807 eyes of 420 patients (33 eyes were excluded owing to poor image quality). Loss of macular pigment, cystoid spaces, pigment plaques, neovascular membranes, and ectatic vascular changes commonly caused characteristic changes on FAF images. All MacTel patients had macular FAF changes in at least 1 eye. In 95% of eyes, these changes were more pronounced temporally than nasally. Common FAF patterns were increased (60%) and mixed/decreased FAF (38%) and/or visibility of vascular changes such as blunted vessels or ectatic capillaries (79%). Based on those features, high diagnostic performance was achieved for detection of the disease based on FAF alone (Youden index up to 0.91). CONCLUSIONS: The study demonstrates that MacTel is consistently associated with disease-specific changes on FAF imaging. Those changes are typically more pronounced in the temporal parafovea.

Prevalence and Severity of Diabetic Retinopathy in Patients with Macular Telangiectasia Type 2.

PURPOSE: To study the prevalence and severity of diabetic retinopathy (DR) in patients with macular telangiectasia type 2 (MacTel 2). DESIGN: Retrospective case series. PARTICIPANTS: Patients with a diagnosis of MacTel 2 treated at the Rotterdam Eye Hospital or Erasmus Medical Center between 2014 and 2018 were included. METHODS: The following information was retrieved from patient files: demographics, history of diabetes mellitus and hypertension, presence of DR, and severity of DR, that is, mild, moderate, severe, or proliferative. Presence of diabetic macular edema (DME) was assessed using OCT. MAIN OUTCOME MEASURES: Presence and severity of DR. RESULTS: Two hundred six eyes of 103 patients were included. At the onset of MacTel 2, the mean age was 61 years (standard deviation [SD], 9.8 years) and 64 (62%) were women. Mean follow-up was 71 months (SD, 60 months). Diabetes mellitus type 2 was present in 50 patients (49%) and hypertension was present in 47 patients (46%). Mild DR was present in 22 eyes (11%), of which 14 eyes (7%) showed signs at baseline and 8 eyes (4%) showed signs at a later time during follow-up. Ten eyes (5%) demonstrated remission of mild DR during follow-up. Both eyes (1%) in 1 patient progressed to moderate DR. Severe DR, proliferative DR, and DME did not occur. CONCLUSIONS: Although diabetes mellitus was highly prevalent among MacTel 2 patients, no patients showed severe or proliferative DR or DME. These findings suggest that MacTel 2 could have a protective effect on the progression of DR. We hypothesize that our results may be explained by the role of Müller cells in the development of MacTel 2 and DR, and therefore a link between both diseases warrants additional studies.

A 10-year review of histopathological findings of enucleated eyes from a tertiary-care center, Pakistan.

OBJECTIVE: To determine the histopathology of enucleated eye specimens. METHODS: The 10-year inventory was conducted at Aga Khan University Hospital, Karachi, and comprised all histopathology reports of enucleated eye specimens received from January 2007 to December 2016 by the Section of Histopathology, Department of Pathology. SPSS 19 was used for data analysis. RESULTS: A total of 232 ocular tissue specimens from 231 patients were evaluated. Ocular tumours were the most common histopathological diagnosis 186(80%). Among tumours, retinoblastoma was the most common 137(59%) followed by malignant melanoma 31(13%) and squamous cell carcinoma 15(6.5%). Overall, 16(6.9%) specimens had degenerative changes secondary to different ocular disorders. Staphyloma and Coat's disease was diagnosed in 3(1.3%) cases each. In 4(1.7%) cases, there was no formal diagnosis. CONCLUSIONS: Early identification of tumours may allow for conservative management and limit the need for enucleations.

Demographic features of idiopathic macular telangiectasia in Korean patients.

PURPOSE: To investigate the clinical and demographic features of idiopathic macular telangiectasia (MacTel) in Korean patients since the introduction of spectral domain optical coherence tomography (SD-OCT). METHODS: We reviewed medical records of patients who were diagnosed with MacTel from 2009 to 2013. All patients underwent fluorescein angiography and SD-OCT and were classified as type 1 or type 2 according to the classification system proposed by Yannuzzi. RESULTS: Over a period of 5 years, 4 (18.2%) patients were diagnosed with type 1 MacTel and 18 (81.8%) patients were diagnosed with type 2 MacTel. All patients with type1 MacTel were male, and their mean age was 51 ± 8.6 years. Among patients with type 2 MacTel, 3 (16.7%) were male, 15 (83.3%) were female, and the mean age was 60 ± 13.6 years. Whereas all type 1 MacTel patients had either metamorphopsia or mild scotoma, of the 18 patients with type 2 MacTel, only 4 (22.2%) had those symptoms, 10 (55.6%) complained of only mild visual impairment, and the other 4 (22.2%) had no symptoms. Intraretinal cystoid spaces were observed in 26 (72.2%) of 36 eyes with type 2 MacTel by SD-OCT. These cystoid spaces had irregular boundaries and did not correspond to angiographic leakages. CONCLUSIONS: Type 2 MacTel was most common in the present study. The wider availability of SD-OCT may have contributed to the diagnosis of type 2 MacTel. Type 2 MacTel may be more prevalent than type 1 in Koreans, which corresponds to the results of Western countries.

CLINICAL CHARACTERISTICS AND TREATMENT OUTCOMES OF COATS DISEASE IN A SAUDI ARABIAN POPULATION.

PURPOSE: To present the clinical aspects and treatment outcomes of Coats disease in Saudi Arabia. METHODS: A retrospective chart review was performed of 92 patients (97 eyes) diagnosed with Coats disease at King Khalid Eye Specialist Hospital from 1983 to 2010. RESULTS: The most common presenting complaint was decreased visual acuity followed by strabismus and then leukocoria. Snellen visual acuity was 20/20 to 20/50 in 9 eyes (9%), 20/50 to 20/160 in 11 eyes (11%), 20/200-counting fingers in 29 eyes (30%), and hand motion to no light perception in 24 eyes (25%). Telangiectasia was located in the preequatorial area in 71 eyes (73%) and most commonly involved the temporal retina in 67 eyes (69%). In eyes with clear view to the fundus, quadrant involvement by telangiectasia had the following distribution: 1) quadrant (n = 36, 37%); 2) quadrants (n = 26, 27%); 3) quadrants (n = 8, 8%); and 4 quadrants (n = 15, 15%). Total retinal detachment was present at presentation in 28 eyes (29%) and neovascular glaucoma in 8 (8%). Based on the Shields classification, the eyes were Stage 1 (n = 1, 1%), Stage 2A (n = 7, 7%), Stage 2B (n = 23, 24%), Stage 3A1 (n = 26, 27%), Stage 3A2 (n = 12, 12%), Stage 3B (n = 16, 17%), Stage 4 (n = 11, 11%), and Stage 5 (n = 5, 1%). Stage 3A was the most commonly presented stage (39%). Primary management included cryotherapy (19%), laser photocoagulation (64%), intravitreal agents (9%), and surgical drainage (4%). Combination treatment was performed in 29% of eyes. Thirteen eyes (13%) were enucleated because of clinical suspicion of retinoblastoma or the presence of glaucoma. Factors that were associated with a poor visual outcome of 20/200 or worse included age less than 10 years (relative risk: 1.27), Stages 3 and 4 disease (relative risk: 1.40), presence of subretinal fluid in all 4 quadrants including the fovea (relative risk: 14.25), and initial visual acuity of 20/200 (relative risk: 6.72) or worse (P < 0.005 for all factors). CONCLUSION: Although rare, Coats disease is usually advanced at presentation and has a poor visual prognosis in the Saudi population, like in other populations. The findings of this study give validity and applicability to the Shields staging scheme, which we recommend using in clinical practice.