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Purpose: To describe the prevalence and risk factors associated with amblyogenic refractive error in children with Coats disease., Methods: The medical records of children (<18 years of age) with unilateral Coats disease treated at a single tertiary care center were retrospectively reviewed. Data collected included patient demographics, ocular examinations, and treatments. Outcomes included the prevalence and factors associated with amblyogenic refractive error., Results: A total of 50 children (82% male) were included; of these, 37 (74%) had refractive data to review. The median age at presentation was 5 years (IQR, 2-10). The Coats disease classification was stage 1 in 1 (2%), stage 2 in 29 (58%), and stage 3 or greater in 20 (40%). Most children (76%) had at least one visit with a pediatric specialist; the rest were only seen by a retina specialist. Among patients with refractive data, amblyogenic refractive error was identified in 46%. Glasses were prescribed to 50% of children. Children diagnosed at an earlier age had increased odds of amblyogenic refractive error (OR = 0.72; 95% CI, 0.57-0.91; P = 0.006) than those diagnosed at an older age., Conclusions: Our results suggest that amblyogenic refractive error is prevalent among children with Coats disease, and refractions are not always performed. There is a need to coordinate care between pediatric and retina specialists caring for children with Coats disease to ensure timely diagnosis of amblyogenic refractive error to optimize visual outcomes in this population., (Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Purpose: To study the clinical profile, treatment, and visual outcome of patients with Coats disease in India., Methods: This was a cross-sectional, observational hospital-based study of patients diagnosed with Coats disease during a 10-year period using an electronic medical record system., Results: We identified 675 patients with Coats disease with a prevalence rate of 0.025%. The mean age of the patients was 16.8 years (median, 12 years). Majority were males (75%) with unilateral presentation (98%) in first decade of life (n = 309, 46%). The most common presentation was foveal exudation (stage 2B, n = 161, 23.3%), followed by exudative retinal detachment-extrafoveal (stage 3A1, n = 143, 20.7%), and extrafoveal exudation (stage 2A, n = 136, 19.7%). Treatment modalities included observation (48 eyes, 17%), laser photocoagulation ± intravitreal bevacizumab/triamcinolone acetonide (n = 82, 29%), cryotherapy ± intravitreal bevacizumab/triamcinolone acetonide (n = 64, 23%), and surgical intervention (n = 86, 31%). Despite appropriate treatment, at mean follow-up of 16 months, there was no significant difference between presenting and final visual acuity (48% vs. 48%, p > 0.05). Using multivariate regression analysis, factors associated with poor visual outcome were younger age (< 0.001; - 0.02 to - 0.1), unilateral disease (0.04; - 0.68 to - 0.01), cataract (0.004; 0.13 to 0.69), retinal detachment (< 0.001; 0.49 to 0.82), and glaucoma (< 0.001; 0.34 to 0.94)., Conclusion: The most common clinical presentation of Coats disease in India is foveal exudation in first and second decade. At initial presentation, about half of the affected eyes had blindness and one-third underwent surgical intervention., (© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)

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., (Copyright © 2021 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

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., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Background: Macular telangiectasia type 2 (MacTel) is a neurodegenerative disease resulting in photoreceptor loss. Optical coherence tomography (OCT) reveals outer retina-associated hyperreflectivity (ORaH) as part of this process. The purpose of this study was to describe the incidence and phenotypical variation of ORaH., Methods: Different parameters of ORaH were analysed: OCT characteristics (Spectralis SD-OCT), correlation with vascular changes (OCT angiography; OCTA 3×3 mm Optovue) and correlation with hyperpigmentation (autofluorescence/fundus images). ORaH was also evaluated regarding the grade of severity of photoreceptor loss (Disease Severity Scale)., Results: Of 220 eyes with MacTel type 2, 106 demonstrated ORaH. On OCT, the size, the extension into the inner retina and the contact with retinal pigment epithelium (RPE) of the ORaH were variable. On OCTA neovascularisation (NV) in the outer retina (OR) was present at the location of the ORaH in 97.6%. Increasing size of NV correlated with progressive photoreceptor loss. In 86.6% with NV, the flow signals were visible between the OR and the choriocapillaris. In 85.7%, the ORaH was associated with hyperpigmentation on autofluorescence and fundus colour images., Conclusions: The presence of ORaH is associated with increasing photoreceptor loss and disease severity. In these more advanced cases of the present study, a variable presentation of ORaH in respect to size and form was seen, but in most cases, ORaH was in contact to the RPE. Additionally, ORaH was associated with hyperpigmentation and OR NV on OCTA. These results are consistent with the concept of ORaH representing fibrovascular OR-NV with RPE proliferation after contact with the RPE., Competing Interests: Competing interests: DP and AB are members of the international MacTel Consortium and have received travel support for the meeting of this Study Group from the LMRI., (© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

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.

Purpose: To determine the age distribution of children with Coats disease and the impact of age at diagnosis on the visual prognosis., Methods: Consecutive Coats disease cases aged 18 years or younger at diagnosis were retrospectively included. Clinical and imaging parameters were analyzed by comparative, correlation, survival, univariate, and multivariate statistics., Results: Ninety-eight patients were included. At diagnosis, mean age was 5.4 years ± 4.3 years (1 month-18 years). Younger age at diagnosis was correlated with more severe disease stage (P < 0.0001, r = -0.52), which was confirmed by survival analysis (P < 0.0001). Comparative analysis was performed between patients younger and older than 4 years at diagnosis. Leukocoria or strabismus was more frequent at presentation in patients younger than 4 years (P < 0.0001). Areas of peripheral nonperfusion and peripheral telangiectasia were more extensive at presentation in younger than older patients (P = 0.0003 and P = 0.039). Foveal sparing at diagnosis was less frequent in younger than older patients (2% vs. 23%, P = 0.002). The incidence of structural complications or enucleation during follow-up (mean duration: 5.9 years ± 4.5 years) was higher, and last-recorded visual acuity was lower in younger than older patients (P = 0.001 and P = 0.0009). Final logarithm of the minimal angle of resolution visual acuity was negatively correlated with age at diagnosis (P = 0.001, Spearman r = -0.42). Multivariate analysis indicated that disease stage (P < 0.0001), but not age at diagnosis (P = 0.07), independently influenced the last-recorded visual acuity., Conclusion: Onset of Coats disease in children of younger age is associated with more severe manifestations, more advanced stage, and worse visual outcome. Age, correlated with disease stage, should be considered a prognostic marker in Coats disease.

Objective: Type 2 idiopathic macular telangiectasia (MacTel2) is a rare retinal disease that has still not been well-defined. The aim of the present manuscript is to describe the clinical features by multimodal retinal imaging, to present the functional characteristics, and to estimate the prevalence of the disease., Methods: A retrospective study was conducted on the 12 eyes of 6 patients with MacTel2. Fundus colour photographs, fundus autofluorescence, fluorescein angiography, optical coherence tomography (OCT), and OCT-angiography were performed and subsequently analysed. Visual acuity (VA) was prospectively recorded. The prevalence was established based on the patients referred to a specialised macular diseases unit. Minimum follow-up period was 18 months., Results: Prevalence of MacTel 2 in our study was 0.12%. Clinical features were presented using multimodal retinal imaging. VA remained stable during follow-up. Three patients developed choroidal neovascularisation (CNV), requiring intravitreal treatment with antiangiogenic agents., Conclusions: The prevalence of the disease found was 0.12%. The study using multimodal imaging allows a more accurate diagnosis and follow-up of this pathology. The VA is maintained during the 18-month follow-up (P=.492). Patients who develop CNV and are treated with antiangiogenic agents appear to respond adequately to them. More studies are needed to establish these conclusions., (Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Purpose: The aim of this study was to evaluate risk factors in patients with macular telangiectasia (MacTel) 2A in an Asian population. This was a hospital-based case-control study., Methods: We reviewed the case records of patients in our hospital, diagnosed as MacTel 2A over a 3-year period from April 2011 to March 2014. Controls were selected from patients seen in the hospital at the same time for visual defects after matching for age and sex. A multivariate logistic regression model was constructed using the variables that showed a statistically significant association (P < 0.05) with MacTel 2A in the univariate analysis., Results: The mean age of the patients with MacTel 2A was 58.63 years. A majority (76; 73.8%) of the patients were female. Of the patients with MacTel 2A, 61 (59.2%) patients had diabetes mellitus, and 50 (48.5%) revealed hypertension. Multivariate logistic regression analysis revealed the presence of diabetes mellitus to be the risk factor with the highest odds ratio (OR) of 5.7 followed by hypertension with an OR of 2.6. Binary logistic regression showed hypermetropia to have a greater risk factor compared to emmetropia, OR 2.64., Conclusion: Our case-control study revealed that MacTel 2A is significantly associated with systemic diseases. Diabetes mellitus was found to have the strongest association with MacTel 2A, showing a high OR of 5.7. Systemic hypertension followed by an OR of 2.6. Compared to emmetropia, hypermetropia was significantly associated with MacTel 2A. There could be a genetic link between the two. Determining risk factors draws us close to the goal of identifying the etiopathogenesis of MacTel 2A.

Introduction: Retrospective study analyzing clinical characteristics and treatment of children affected by Leber-Coats' disease., Method: Children with Leber-Coats' disease seen in Edouard-Herriot Hospital, Lyon, between January 2004 and September 2013 were included. The following clinical characteristics were reported: sex, age at diagnosis, presenting symptom, Shields' stage, treatment used, and visual outcomes., Results: Ten children were included in our study. Mean age at diagnosis was 5.5 years. The disease was unilateral in 9/10 cases. The presenting symptom was loss of vision in 7/10 cases, strabismus in 3/10 cases, and microphthalmos in 1 case. The diagnosis was made fortuitously during a follow-up of familial congenital cataract in 2 patients. No cases of leukocoria were seen. Shields' stages were distributed as follows: stage 1, 2A and 2B: 1 case each, stage 3A1: 7 cases, stage>3A1: no cases. Laser photocoagulation was used up to stage 2B, combined with cryotherapy in stage 3A. Stage 1 and 2A were associated with relatively good final visual acuity. Significant macular lipid exudate (stage>2A) was associated with a worse prognosis., Conclusion: These epidemiological data help us to better characterize these patients' prognosis. Early diagnosis seems to improve visual outcomes., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

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.

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.

Purpose: Macular telangiectasia type 2 (MacTel-2) is a retinal disease that can cause loss of central vision. To gain better understanding of the etiology and pathogenesis of MacTel-2, we investigated antigens that prompt the generation of retinal autoantibodies in the serum of patients with MacTel-2., Methods: We screened for the presence of retinal autoantibodies in 45 serum samples collected from patients with MacTel-2 and 58 serum samples from healthy control subjects by Western blot. We then isolated and identified three retinal proteins that are putative targets of three of the most frequently detected autoantibodies in the serum of patients with MacTel-2 using chromatographic fractionation and liquid chromatography coupled to tandem mass spectrometry. We also validated the retinal location of the three antigens by immunohistochemisty using MacTel-2 sera as primary antibodies and commercial antibodies., Results: Retinal autoantibodies were detected in a significantly higher proportion of patients with MacTel-2 than in controls (31 of 45 [69%] vs. 9 of 58 [16%], P < 0.0001). The three antigens that were targeted by the most frequently detected MacTel-2 autoantibodies were identified as glycogen debranching enzyme (hereafter AGL, named for the gene symbol AGL), retinol-binding protein 3 (RBP3), and creatine kinase type B (CK-B); autoantibodies against these antigens were found in four, eleven, and nine MacTel-2 serum samples, respectively., Conclusions: We found that most patients with MacTel-2 possess retinal autoantibodies, the most prevalent of which were directed against AGL, RBP3, and CK-B. The localization of retinal proteins bound by AGL, RBP3, and CK-B autoantibodies is consistent with their putative physiological functions. These findings provide potentially novel mechanisms for the etiology and pathogenesis of MacTel-2.

Purpose: To determine whether the prevalences of various systemic conditions in participants of the MacTel Project Natural History Observation (NHO) Study differ from the corresponding prevalences in the general population., Methods: This report compares the prevalence of systemic disease in participants of the NHO Study with age- and sex-matched controls from three population-based studies from the US, the Netherlands and Australia. Bootstrap simulations were used to evaluate the impact and reliability of the computed statistics., Results: We identified a number of systemic conditions that appear to be more prevalent in cases with macular telangiectasia (MacTel) Type 2 than in the general population that were matched for age and sex with the MacTel cases. Patients with MacTel Type 2 had significantly increased prevalence of diabetes mellitus, higher prevalence of obesity, hypertension and history of cardiovascular disease, compared to their same-aged peers in generally older communities., Conclusion: Systemic disease associated with MacTel Type 2 may help to improve understanding of possible causes of MacTel Type 2. It is hoped that future studies will help to improve our understanding of the pathogenesis of the condition and lead to potential treatments for this ocular disease.

Objective: To investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1)., Methods: We searched a North American FSHD registry and the University of Rochester (UR) FSHD research database, reviewed the literature, and sent surveys to 14 FSHD referral centers in the United States and overseas to identify patients with genetically confirmed FSHD1 with a diagnosis of Coats syndrome., Results: Out of 357 genetically confirmed patients in a North American FSHD registry and 51 patients in the UR database, 3 patients had a self-reported history of Coats disease (0.8%; 95% confidence interval 0.2%-2.2%). In total, we identified 14 patients with FSHD with known genetic contraction size and Coats syndrome confirmed by ophthalmologic examination: 10 from our survey and 4 from the literature. The median age at diagnosis of Coats syndrome was 10 years (interquartile range 14 years). The median D4Z4 fragment size was 13 kilobases (kb) (interquartile range 1 kb). One patient was mosaic (55% 11 kb, and 45% 78 kb)., Conclusions: Coats syndrome is a rare extramuscular complication of FSHD1 associated with large D4Z4 contractions. Closer surveillance for retinal complications is warranted in patients with D4Z4 fragments ≤15 kb.

Purpose: Type 2 idiopathic macular telangiectasia (MacTel) is a progressive retinal disease associated with a slow deterioration of visual acuity, starting in the fifth to seventh decades of life. The etiology and pathogenesis of the disease are little known, and no effective therapy is available. We aimed to estimate the prevalence and describe the phenotype of type 2 MacTel in two African populations., Methods: From two population-based cross-sectional surveys conducted nationally in Nigeria and in the Nakuru district of Kenya, patients with fundus features of type 2 MacTel were selected. Diagnosis was based on color fundus images, grading performed according to the MacTel Study protocol and staged using the Gass and Blodi system. Disease phenotype and clinical characteristics of affected participants were assessed., Results: Of 8599 total participants, five showed a phenotype compatible with type 2 MacTel. Prevalence was estimated as 0.06% (95% confidence interval [CI] 0.02-0.21%) in Kenya, 0.06% (95% CI 0.01-0.17%) in Nigeria, and overall at 0.06% (95% CI 0.02-0.14%). Mean age was 62 years (SD 5 years), four of five affected participants were female, and none had a history of diabetes. Median corrected visual acuity was 6/12 in the better eye and 6/69 in the worse eye., Conclusions: The estimated prevalence and phenotype of type 2 MacTel in the African populations examined were similar to those in predominantly white populations. All data published so far are based on the analysis of color fundus images only and are thus likely to underestimate the true prevalence of this disease.

Aims: 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., Methods: 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., Results: 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., Conclusions: 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.