Study protocol of a national multicentre prospective evaluation study assessing the validity and impact of the Dutch Paediatric Early Warning Score (PEWS) in the Netherlands.

INTRODUCTION: Early recognition of clinical deterioration and timely intervention are important to improve morbidity and mortality in paediatric care. The Paediatric Early Warning Score (PEWS) is a scoring system aiming to identify hospitalised children at risk for deterioration. Currently, there is a large heterogeneity of PEWS systems in the Netherlands, with a considerable number remaining unvalidated or self-designed. Therefore, a consensus-based Dutch PEWS has been developed in a national study using the Core Outcome Measures in Effectiveness Trials initiative. The Dutch PEWS is a uniform system that integrates a core set of vital parameters together with pre-existing risk factors and uses risk stratification to proactively follow-up on patients at risk (so-called 'watcher patients'). This study aims to validate the Dutch PEWS and to determine its impact on improving patient safety in various hospital settings. METHODS AND ANALYSIS: This national study will be a large multicentre evaluation study, in which the Dutch PEWS will be implemented and evaluated in 12 hospitals in the Netherlands. In this study, a mixed methods methodology will be used and evaluated on predefined outcome measures. To examine the validity of the Dutch PEWS, statistical analyses will be undertaken on quantitative data retrieved from electronic health records. Surveys among physicians and nurses; semistructured interviews with healthcare providers and parents; and daily evaluation forms are being conducted to determine the impact of the Dutch PEWS. The study is being conducted from December 2020 to June 2024.

A Systematic Approach to Evaluate Sudden Unexplained Death in Children.

OBJECTIVE: To evaluate in the Netherlands the national outcomes in providing cause of and insights into sudden and unexplained child deaths among children via the Postmortem Evaluation of Sudden Unexplained Death in Youth (PESUDY) procedure. STUDY DESIGN: Children aged 0-18 years in the Netherlands who died suddenly were included in the PESUDY procedure if their death was unexplained and their parents gave consent. The PESUDY procedure consists of pediatric and forensic examination, biochemical, and microbiological tests; radiologic imaging; autopsy; and multidisciplinary discussion. Data on history, modifiable factors, previous symptoms, performed diagnostics, and cause of death were collected between October 2016 and December 2021. RESULTS: In total, 212 cases (median age 11 months, 56% boys, 33% comorbidity) were included. Microbiological, toxicological, and metabolic testing was performed in 93%, 34%, and 32% of cases. In 95% a computed tomography scan or magnetic resonance imaging was done and in 62% an autopsy was performed. The cause of death was explained in 58% of cases and a plausible cause was identified in an additional 13%. Most children died from infectious diseases. Noninfectious cardiac causes were the second leading cause of death found. Modifiable factors were identified in 24% of non-sudden infant death syndrome/unclassified sudden infant death cases and mostly involved overlooked alarming symptoms. CONCLUSIONS: The PESUDY procedure is valuable and effective for determining the cause of death in children with sudden unexplained deaths and for providing answers to grieving parents and involved health care professionals.

Development of the national Dutch PEWS: the challenge against heterogeneity and implementation difficulties of PEWS in the Netherlands.

BACKGROUND: For the early recognition of deteriorating patients several Pediatric Early Warning Score (PEWS) systems have been developed with the assumption that early detection can prevent further deterioration. Although PEWS are widely being used in hospitals in the Netherlands, there is no national consensus on which score to use and how to embed the score into a PEWS system. This resulted in a substantial heterogeneity of PEWS systems, of which many are unvalidated or self-designed. The primary objective of this study was to develop a pragmatic consensus-based PEWS system that can be utilized in all Dutch hospitals (University Medical Centers, teaching hospitals, and general hospitals). METHODS: This study is an iterative mixed-methods study. The methods from the Core Outcome Measures in Effectiveness Trials (COMET) initiative were used and consisted of two Delphi rounds, two inventories set out to all Dutch hospitals and a focus group session with parents. The study was guided by five expert meetings with different stakeholders and a final consensus meeting that resulted in a core PEWS set. RESULTS: The first Delphi round was completed by 292 healthcare professionals, consisting of pediatric nurses and physicians. In the second Delphi round 217 healthcare professionals participated. Eventually, the core PEWS set was been developed comprising of the parameters work of breathing, respiratory rate, oxygen therapy, heart rate and capillary refill time, and AVPU (Alert, Verbal, Pain, and Unresponsive). In addition, risk stratification was added to the core set with standardized risk factors consisting of [1] worried signs from healthcare professionals and parents and [2] high-risk treatment, with the option to add applicable local defined risk factors. Lastly, the three categories of risk stratification were defined (standard, medium, and high risk) in combination with standardized actions of the professionals for each category. CONCLUSION: This study demonstrates a way to end a country's struggle with PEWS heterogeneity by co-designing a national Dutch PEWS system. Currently, the power of the system is being investigated in a large multi-center study in the Netherlands.

[How do we help children who visit an emergency department frequently?] / Wat te doen voor kinderen die vaak de SEH bezoeken?

Dutch research demonstrated that almost 5% of the pediatric population at an emergency department (ED) of an university hospital are so-called frequent flyers (FFs). These FFs account for more than 20% of all pediatric visits. Three-quarter of these FFs have (multiple) comorbidities. We hypothesize that among these FFs three groups can be recognized: (1) patients with acute manifestations from their comorbidity, (2) patients with medical complexity and (3) patients from families with psychosocial fragility. FFs from these groups should be recognized and offered a tailor-made care plan to reduce (unnecessary) ED visits.

Effective low-dose sirolimus regimen for kaposiform haemangioendothelioma with Kasabach-Merritt phenomenon in young infants.

AIMS: Management of kaposiform haemangioendotheliomas (KHE) with Kasabach-Merritt phenomenon is challenging in young infants who are subjected to developmental pharmacokinetic changes. Sirolimus, sometimes combined with corticosteroids, can be used as an effective treatment of KHE. Simultaneously, toxicities such as interstitial pneumonitis related to the use of sirolimus may be fatal. As infants have a very low CYP3-enzyme expression at birth, which rises during ageing, we hypothesize that a reduced metabolization of sirolimus might lead to high sirolimus serum levels and low dose may be sufficient without the side effects. METHODS: A case series of 5 infants with kaposiform haemangioendothelioma with Kasabach-Merritt phenomenon was analysed retrospectively. All infants were treated with sirolimus 0.2 mg/m2 every 24 or 48 hours according to their age. Prednisone was added to the therapy for additional effect in 4 patients. RESULTS: In all patients, low dose of sirolimus led to therapeutic sirolimus levels (4-6 ng/mL). All infants (aged 4 days-7 months) had a complete haematological response, without serious adverse events. In all patients, the Kasabach-Merritt phenomenon resolved, the coagulation profile normalized and tumour size reduction was seen. CONCLUSION: Low-dose sirolimus treatment is safe for infants with kaposiform haemangioendothelioma and Kasabach-Merritt phenomenon. It is essential to realize that during the first months of life, metabolism is still developing and enzymes necessary to metabolise drugs like sirolimus still have to mature. To avoid toxic levels, the sirolimus dosage should be based on age and the associated pharmacological developments.

Risk stratification to improve Pediatric Early Warning Systems: it is all about the context.

Early recognition of critically ill patients is of paramount importance to reduce pediatric mortality and morbidity. We created a risk stratification system combining vital parameters and predefined risk factors aimed at reducing the risk of unrecognized clinical deterioration compared with conventional Pediatric Early Warning Systems (PEWS). This single-center retrospective case cohort study included infants (gestational age ≥ 37 weeks) to adolescents (aged <18 years) with unplanned pediatric intensive care unit (PICU) admission between April 01, 2014, and February 28, 2018. The sensitivity in the 24 h prior to endpoint of the Pediatric Risk Evaluation and Stratification System (PRESS) was compared with that of the conventional PEWS and calculated as the proportion of study patients who received a high-risk score. Seventy-four PICU admissions were included. PRESS and PEWS sensitivities at 2 h prior to endpoint were 0.70 (95%CI 0.59 to 0.80) and 0.30 (95%CI 0.20 to 0.42) respectively (p < 0.001). Excluding patients with seizures, PRESS sensitivity increased to 0.75 (95%CI 0.64 to 0.85). Forty-nine patients (66%) scored positive on at least one high-risk factor, and "worried sign" was scored in 31 patients (42%).Conclusion: Risk stratification seems advantageous for a faster detection of clinical deterioration, providing opportunity for earlier intervention. What is Known: • Prompt detection of clinical deterioration is of essential importance to reduce morbidity and mortality. • Conventional Pediatric Early Warning Systems (PEWS) have limited sensitivity and a short window of detection of 1 to 2 h. What is New: • Risk stratification based on context factors allows earlier identification of patients at risk, well before deviation of vital signs. • Risk stratification combined with continuous monitoring of deteriorating trends in vital signs could lead to the development of next-generation warning systems achieving true patient safety.

Pediatric Early Warning System Scores: Lessons to be Learned.

The objective was to evaluate the use of a pediatric early warning system (PEWS) score in Dutch general and university hospitals, 4 years after the introduction of a national safety program in which the implementation of a PEWS was advised. An electronic cross-sectional survey was used. All general and university hospitals ( n = 91) with a pediatric department in The Netherlands were included in the study. The response rate was 100%. Three-quarters of all Dutch hospitals were using a PEWS score in the pediatric department. A wide variation in the parameters was found leading to 45 different PEWS scores. Almost all PEWS scores were invalidated, self-designed, or modified from other PEWS scores. In one-third of the hospitals with an emergency room, a PEWS was used with a wide variation in the parameters leading to 20 different PEWS scores, the majority of which are invalidated. Three-quarters of the hospitals did implement a PEWS score. The majority implemented an invalidated PEWS score. This may lead to a false sense of security or even a potentially dangerous situation. Although these systems are intuitively experienced as useful, the scientific evidence in terms of hospital mortality reduction and patient safety improvement is lacking. It is recommended to establish a national working group to coordinate the development, validation, and implementation of a wide safety program and a PEWS usable for both general and university hospitals.

Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.

AIM: Preterm birth is the world's leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency. A majority of patients with Sjögren-Larsson syndrome is born preterm. METHODS: Data of all known Dutch patients with Sjögren-Larsson syndrome and all cases reported in literature were analyzed to learn from preterm birth in context of this rare disease. RESULTS: Exact gestational age was known in 33 Dutch patients; 24 (73%) of them were born preterm, with a median gestational age of 36 weeks. The literature search confirmed our findings: 13 (59%) of 22 cases was born preterm. CONCLUSIONS: Preterm birth is a hallmark of Sjögren-Larsson syndrome, presumably caused by the abnormal lipid metabolism of the fetus. At least five additional rare genetic disorders (namely Ehlers-Danlos syndrome, ichthyosis prematurity syndrome, congenital analbuminemia, osteogenesis imperfecta type II and restrictive dermopathy) were found in literature that lead to preterm birth of the affected fetus. These disorders are in fact "experiments of nature" and as such they shed new lights on the mechanisms causing preterm birth.

Clinician Perceptions of an Early Warning System on Patient Safety.

BACKGROUND AND OBJECTIVES: The Pediatric Early Warning Score (PEWS) aims to improve early recognition of clinical deterioration and is widely used despite lacking evidence of effects on outcome measures such as hospital mortality. In this qualitative study, we aimed to study effects of both PEWS and the locally designed risk stratification system by focusing on professionals' perception of their performance. We also sought to gain insight into the perceived effects of PEWS and the risk stratification system on patient safety and to unravel the underlying mechanisms. METHODS: A single-center cross-sectional observational study whereby 16 semistructured interviews were held with selected health care professionals focusing on perceived effects and underlying mechanisms. Interviews were transcribed verbatim and coded without using a predetermined set of themes. RESULTS: Coding from semistructured interviews demonstrated that perceived value was related to effects on different levels of Endsley and co-workers' situational awareness (SA) model. PEWS mainly improved level 1 SA, whereas the risk stratification system also seemed to improve levels 2 and 3 SA. CONCLUSIONS: This study shows clear effects of PEWS on SA among professionals. It also points to the additional value of other risk factor stratification systems to help further improve PEWS functioning.

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.

N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification. The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and gene expression. Accordingly, altered levels of protein O-GlcNAcylation have been associated with developmental defects and neurodegeneration. However, mutations in the OGT gene have not yet been functionally confirmed in humans. Here, we report on two hemizygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463-6T>G). Both mutations reside in the tetratricopeptide repeats of OGT that are essential for substrate recognition. We observed slightly reduced levels of OGT protein and reduced levels of its opposing enzyme O-GlcNAcase in both patient-derived fibroblasts, but global O-GlcNAc levels appeared to be unaffected. Our data suggest that mutant cells attempt to maintain global O-GlcNAcylation by down-regulating O-GlcNAcase expression. We also found that the c.463-6T>G mutation leads to aberrant mRNA splicing, but no stable truncated protein was detected in the corresponding patient-derived fibroblasts. Recombinant OGT bearing the p.Arg284Pro mutation was prone to unfolding and exhibited reduced glycosylation activity against a complex array of glycosylation substrates and proteolytic processing of the transcription factor host cell factor 1, which is also encoded by an XLID-associated gene. We conclude that defects in O-GlcNAc homeostasis and host cell factor 1 proteolysis may play roles in mediation of XLID in individuals with OGT mutations.

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP, OMIM: #208250) syndrome is a rare autosomal recessive disease that can be difficult to recognise not only because of its wide clinical variability but also because of its clinical resemblance to juvenile idiopathic arthritis (JIA). PRG4 is the only gene so far known to be associated with CACP syndrome. Children with CACP syndrome lack the glycoprotein lubricin due to recessive mutations in PRG4. Lubricin serves as a lubricant in joints, tendons and visceral cavities (pleural cavity, pericardium) and inhibits synovial proliferation. Children with CACP syndrome suffer from congenital camptodactyly, arthropathy, coxa vara and sometimes pericarditis. This report concerns a child with CACP syndrome complicated by protein-losing enteropathy (PLE), caused by constrictive pericarditis and so contributes to knowledge of the presentation of CACP syndrome. CASE PRESENTATION: A 10- year-old girl with consanguineous parents suffered from congenital camptodactyly and progressive swollen and painful joints. Her father and his sister had similar childhood-onset joint complaints. Laboratory tests showed no signs of inflammation but showed persistent low protein- and IgG- levels, indicating a secondary immunodeficiency. Increased alpha antitrypsin clearance confirmed PLE. Abdominal ultrasound with Doppler showed hepatomegaly and portal hypertension. Echocardiography suggested constrictive pericarditis. However, heart catheterization could not confirm this. Ultrasound and X-ray examination of the joints combined with a puncture of the synovial fluid were performed. These results, combined with the clinical presentation and the consanguinity, suggested CACP syndrome. Due to excessive enteral protein losses, the patient was treated with Cotrimoxazol prophylaxis and immunoglobulin supplements. These supplements were inadequate to achieve normal IgG values. As constrictive pericarditis with subsequent PLE was the best explanation for the excessive IgG losses, pericardiectomy was performed with good results. Genetic testing in our patient was complicated but revealed a pathogenic mutation within the repeat sequence in exon 7 of the PRG4 gene. CONCLUSION: PLE resulting from constrictive pericarditis can be a complication of CACP syndrome. As serious complications can arise from the resulting secondary immunodeficiency, we recommend regular evaluation of clinical symptoms of constrictive pericarditis and PLE in children with CACP syndrome.

Validation of a Paediatric Early Warning Score: first results and implications of usage.

UNLABELLED: Timely recognition of deterioration of hospitalised children is important to improve mortality. We developed a modified Paediatric Early Warning Score (PEWS) and studied the effects by performing three different cohort studies using different end points. Taking unplanned Paediatric Intensive Care Unit admission as end point and only using data until 2 h prior to end point, we found a sensitivity of 0.67 and specificity of 0.88 to timely recognise patients. This proves that earlier identification is possible without a loss of sensitivity compared to other PEWS systems. When determining the corresponding clinical condition in patients with an elevated PEWS dichotomously as 'sick' or 'well', this resulted in a total of 27 % false-positive scores. This can cause motivational problems for caregivers to use the system but is a consequence of PEWS design to minimise false-negative rates because of high mortality associated with paediatric resuscitation. Using the need for emergency medical interventions as end point, sensitivity of PEWS is high and it seems, therefore, that it is also fit to alert health-care professionals that urgent interventions may be needed. CONCLUSION: These data show the effectiveness of a modified PEWS in identifying critically ill patients in an early phase making early interventions possible and hopefully reduce mortality.

Multimodal imaging of the macula in hereditary and acquired lack of macular pigment.

PURPOSE: Macular pigment (MP) deficit has been described in macular teleangiectasia type 2 (MTA; acquired MP loss) and in Sjögren-Larsson syndrome (SLS; hereditary MP deficiency). Central blue light-induced fundus autofluorescence (FAF) and blue light fundus reflectance (BLR) are thought to reflect MP distribution. This study was performed to describe the macular morphology in SLS and MTA by multimodal imaging to further investigate the causes of FAF and BLR changes in these disorders. METHODS: This was a single-centre, cross-sectional, retrospective, observational study on SLS and MTA patients treated at our institution. In a multimodal retinal imaging dataset, patterns of BLR and FAF changes were compared with the optical coherence tomography (OCT) and clinical appearance of the patients' retinas. RESULTS: Multimodal image sets of seven eyes of four patients with SLS and of 25 eyes of 15 patients with MTA were included in this study. In MTA, areas of focal FAF increase were mainly associated with retinal pseudocysts and photoreceptor loss and were co-located with regions of increased BLR. In SLS, areas of focally decreased FAF correlated with the typical intraretinal glistening dots. Frequently, a spot of focally increased FAF was visible at the fovea of SLS patients, often independent of the presence of pseudocysts or photoreceptor loss on OCT. CONCLUSION: In MTA and SLS different patterns of FAF alterations could be observed. The areas of increased BLR, which are thought to correlate with MP loss, appeared to have only restricted correlation with FAF appearance.

Sjögren-Larsson syndrome in clinical practice.

This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician toward the diagnosis SLS. Furthermore, current and future treatment strategies are discussed to render a comprehensive review of the topic.

Patients with Sjögren-Larsson syndrome lack macular pigment.

PURPOSE: Sjögren-Larsson syndrome (SLS), an autosomal recessive hereditary disorder with congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation, reveals a characteristic macular dystrophy with intraretinal crystals and foveal pseudocysts. Ophthalmic symptoms in SLS are reduced visual acuity and photophobia. This article reports the deficiency of macular pigment as a novel finding in this peculiar, congenital maculopathy. DESIGN: Cross-sectional, observational case study. PARTICIPANTS: Patients with clinically and genetically proven SLS. METHODS: Besides general ophthalmologic examination, 2 different methods were used, fundus autofluorescence (FAF) and fundus reflectometry with the macular pigment reflectometer (MPR), for measuring macular pigment (MP). MAIN OUTCOME MEASURES: Distribution profiles and quantity of MP in eyes of SLS patients. RESULTS: Twenty-eight eyes of 14 patients were included. The technique to measure MP depended on the ability of the mentally handicapped patients to cooperate. Fundus autofluorescence images providing qualitative estimates were obtained from 9 eyes of 5 patients, and MPR measures providing quantitative estimates were obtained from 19 eyes of 10 patients. Fundus autofluorescence images of SLS patients lacked the typical attenuation of macular FAF signal expected in normal eyes. Mean foveal MP levels measured by MPR showed significantly lower values in SLS patients (0.10+/-0.07) than in healthy individuals (0.69+/-0.17; P<0.001, Student t test). CONCLUSIONS: The group of SLS patients studied here had significantly reduced levels of foveal MP. The crystalline macular dystrophy in SLS seems to be the first known disease with a genetically caused deficiency of MP.

Speech-language performance in Sjögren-Larsson syndrome.

OBJECTIVE: To describe speech-language pathology in patients with Sjögren-Larsson syndrome (SLS) in relation to their cognitive and motor impairment. DESIGN: Observational case series. METHODS: Cognitive functioning was assessed in 16 patients with SLS (nine males; seven females) using different neuropsychological tests. Speech-language pathology was studied focusing on dysarthria, oral motor functioning, speech intelligibility and language development. Potential correlations between speech-language pathology and other neurological symptoms (e.g. spasticity) were studied. RESULTS: The median cognitive developmental age was 5;8 (n = 13; range 3;5-8;0) years. A variable degree of mainly pseudobulbar dysarthria was found. Speech intelligibility was influenced by dysarthria, but was also related to language pathology. No correlation between motor functioning and dysarthria or cognitive development was observed. CONCLUSION: Dysarthria and language problems are important factors in daily life functioning of patients with SLS. Based upon the clinical profile found, early speech-language therapy is recommended in order to optimize their speech-language development.

Sjögren-Larsson syndrome: motor performance and everyday functioning in 17 patients.

Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurometabolic disorder characterized by spasticity, learning disability, and ichthyosis. To our knowledge, there is no detailed report in the literature concerning the functional consequences of SLS. Therefore, we performed a cross-sectional study of motor performance and everyday functioning in 17 patients with this rare disorder. Nine female and eight male patients with SLS (age range 1-35y) were investigated. Data were obtained by structured interview with parents and patients with SLS, a telephone-conducted questionnaire, and physical examination. Motor performance was measured by the Gross Motor Function Measure; everyday functioning was assessed using the Pediatric Evaluation of Disability Inventory and the Vineland Adaptive Behavior Scale. In most patients, spasticity was bilaterally present in hamstrings, hip adductors, and gastrocnemic muscles. All participants above 7 years had contractures in the lower extremities. Limitations were present in all gross motor dimensions, except for lying and rolling. Participants had developmental ages far below their chronological age. This study revealed that patients with SLS have limitations in gross motor performance. Although some patients can reach a certain level of independence, most have activity limitations and restrictions in their participation in society.

Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren-Larsson syndrome detected by optical coherence tomography.

PURPOSE: To study morphologic changes in the macula by optical coherence tomography (OCT) in patients with a crystalline macular dystrophy due to the autosomal recessive neurocutaneous Sjögren-Larsson syndrome (SLS). DESIGN: Retrospective observational case series. PARTICIPANTS: Twenty-seven eyes of 14 patients, mean age 14.6 (range, 3-24) years, with biochemically and genetically proven SLS underwent clinical and OCT investigation between September 2004 and September 2006. METHODS: All patients underwent full ophthalmologic examination including slit-lamp biomicroscopy and binocular ophthalmoscopy. Optical coherence tomography of all eyes was performed using the macular thickness map protocol of Stratus OCT. MAIN OUTCOME MEASURES: Macular morphology in clinical examination and OCT. RESULTS: Beside clinically visible perimacular crystalline deposits in all eyes of all study participants, macular morphology and reflectivity were significantly changed on OCT compared with healthy eyes. We found focal hyperreflectivities in all study eyes within the perifoveal ganglion cell layer and the inner plexiform layer, corresponding to the clinical localization of retinal crystals. More interestingly, a cystoid foveal degeneration on OCT was present in the majority of patients with SLS (18/27 eyes, or 67% of all eyes studied), varying from multiple microcystoid spaces to cystoid foveal atrophy. In general, patients who were severely affected on OCT showed intense changes on previously performed cerebral magnetic resonance spectroscopy. CONCLUSIONS: Patients with SLS show a childhood-onset crystalline macular dystrophy with cystoid foveal atrophy on OCT in most cases. The intraretinal deposition of lipid metabolites may lead to Müller cell degeneration with subsequent formation of cystoid spaces or atrophic changes within the fovea. Because this macular dystrophy is present in all examined patients with SLS, familiarity with this maculopathy seems important for the diagnosis of this rare systemic disease.