Ophthalmologic Manifestations and Retinal Findings in Children with Down Syndrome

Uğurlu, Adem; Altınkurt, Emre

doi:10.1155/2020/9726261

Cited by 21 publications

(23 citation statements)

References 20 publications

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“…The surgical techniques were adapted to each case, depending on the patient’s age, biometric measurements and associated eye anomalies. The chosen surgical treatment was related to the particularities of the children’s eyes: small antero-posterior axis, more curved cornea, special elasticity of the capsular bag, intense inflammatory response to surgical aggressions [ 11 ].…”

Section: Resultsmentioning

confidence: 99%

Clinical and therapeutic particularities of congenital cataracts in pediatric patients with Down syndrome

Voinea

Tătaru

Sima³

2020

rjo

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Objective: This study aims to identify clinical and therapeutic surgical particularities and postoperative complications encountered in children suffering from Down syndrome and congenital cataract, as well as the existence of a correlation with associated systemic anomalies. Methods: A retrospective interventional study that analyzes cases of congenital cataracts operated on a group of 14 children with Down syndrome, respectively on 26 eyes, was performed. The age of the children at the time of the surgery, the presence of associated ocular and systemic anomalies, the employed surgical technique, the frequency and the type of postoperative complications, were examined. Results: Cataracts present at birth, with recommendations for surgical treatment, were rare among children suffering from Down syndrome, but their frequency increased with age. Most children had systemic anomalies, but also other, usually multiple, ocular anomalies. The rate of postoperative complications was higher than among children with congenital cataracts, but without Down syndrome. In six cases, more than one complication/ case was identified. It was not possible to establish a clear correlation between the number and type of the postoperative complication and the systemic anomalies, nor was it possible to establish a correlation with the functional visual outcomes, because those children had other important ocular anomalies as well. Conclusions: Congenital cataracts with recommendations for surgical treatment in children suffering from Down syndrome have a low incidence, but an increase in frequency can be noticed with age. The recommended surgical technique is the one that involves maneuvers for the prevention of visual axis re-opacification. Per primam implantation is definitely indicated. The risk of postoperative complications is high, in terms of both frequency and number, with the possibility that more than one complication occurs, unrelated to a particular systemic anomaly, in one patient.

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Section: Resultsmentioning

confidence: 99%

Clinical and therapeutic particularities of congenital cataracts in pediatric patients with Down syndrome

Voinea

Tătaru

Sima³

2020

rjo

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“…In this study, we did not further investigate these retinal findings. However, Ugurlu and Altinkurt have found that individuals with trisomy 21 on average present with a higher central retinal thickness as well as higher retinal nerve fibre layer of the papilla [14]. Mangalesh et al showed that already infants with trisomy 21 can present with retinal abnormalities such as abnormal foveal morphology [15].…”

Section: Discussionmentioning

confidence: 99%

Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations

Robinson

Pompe

Gerth‐Kahlert

2021

Journal of Ophthalmology

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Purpose. To summarize and review the common ophthalmic anomalies in children with trisomy 21 (Down syndrome) in order to propose an update to current clinical recommendations. Methods. A retrospective chart review, systemic literature review, and international survey of the frequency of ocular abnormalities, screening schedules, and challenging aspects examining children with trisomy 21. The chart review included patients treated at the Department of Ophthalmology at the University Hospital of Zurich over a two-year period. The international survey was submitted to the members of the Swiss Society of Ophthalmology, Slovenian Ophthalmological Society, and European Pediatric Ophthalmology Society. Results. Analysis of 52 patient records during the study period revealed refractive errors (astigmatism: 54% of patients, hyperopia: 26%, and myopia: 15%) as the most common diagnosis, whereas childhood cataract was reported in 5%. This is in concordance with the extended literature review of 249 publications, although congenital cataracts were reported to be higher than at our institution. The survey participants reported great challenges in taking care of these patients, despite their long professional experience (73% with over 10 years of experience). Conclusion. Care and treatment of children with trisomy 21 continues to be demanding for paediatric ophthalmologists. We recommend the following examination schedule for these patients: first, ophthalmological examination at 6–12 months of age, then once in 3–6 months for children under 2 years of age, once in 6 months for children 2–5 years of age, annually for children 5–10 years of age, and thereafter, to be decided on an individual basis depending on the presenting ocular abnormalities of the patient.

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“…59 These findings are supported by other recent optical coherence tomography findings that children with Down syndrome have abnormal development of foveal morphology 60 or an increased retinal thickness. 61 Thus, mild foveal hypoplasia could contribute to decreased visual acuity and sensory nystagmus in some children with Down syndrome. Further, Laguna and colleagues and Ugurlu and colleagues, with the aid of optical coherence tomography, found increased thickness of the neural retina in individuals with Down syndrome as well as in the trisomic mouse model, probably due to genetic influences on retinal development.…”

Section: Nystagmusmentioning

confidence: 99%

“…Further, Laguna and colleagues and Ugurlu and colleagues, with the aid of optical coherence tomography, found increased thickness of the neural retina in individuals with Down syndrome as well as in the trisomic mouse model, probably due to genetic influences on retinal development. 61,62 Hypoaccommodation Accommodation is the capacity of the eye to change focus to enable clear vision at near. 26 Numerous studies have reported accommodation deficits in individuals with Down syndrome.…”

Section: Nystagmusmentioning

confidence: 99%

Neuro-Ophthalmological Manifestations in Children with Down Syndrome: Current Perspectives

Postolache¹,

Monier²,

Lhoir³

2021

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Down syndrome, caused by an extra copy of all or part of chromosome 21, is the most prevalent intellectual disability of genetic origin. Among numerous comorbidities which are part of the phenotype of individuals with Down syndrome, ocular problems appear to be highly prevalent. Neuro-ophthalmological manifestations, such as ocular alignment and motility disturbances, amblyopia, hypoaccommodation or optic nerve abnormalities, and other organic ocular anomalies frequently reported in Down syndrome, may lead to an overall decrease in visual acuity. Although numerous studies have reported ocular anomalies related to Down syndrome, it remains challenging to determine the impact of each anomaly upon the decreased visual acuity, as most such individuals have more than one ocular problem. Even in children with Down syndrome and no apparent ocular defect, visual acuity has been found to be reduced compared with typically developing children. Pediatric ophthalmological examination is a critical component of a multidisciplinary approach to prevent and treat ocular complications and improve the visual outcome in children with Down syndrome. This narrative review aims to provide a better understanding of the neuroophthalmological manifestations and discuss the current ophthalmological management in children with Down syndrome.

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Ophthalmologic Manifestations and Retinal Findings in Children with Down Syndrome

Cited by 21 publications

References 20 publications

Clinical and therapeutic particularities of congenital cataracts in pediatric patients with Down syndrome

Clinical and therapeutic particularities of congenital cataracts in pediatric patients with Down syndrome

Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations

Neuro-Ophthalmological Manifestations in Children with Down Syndrome: Current Perspectives

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