Early-Onset Stargardt Disease

Lambertus, Stanley; Huet, Ramon A. C. van; Bax, Nathalie M.; Hoefsloot, Lies H.; Cremers, Frans P.M.; Boon, Camiel J F; Klevering, B. Jeroen; Hoyng, Carel B.

doi:10.1016/j.ophtha.2014.08.032

Cited by 129 publications

(71 citation statements)

References 41 publications

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“…To control for possible effects of rapid early vision loss on neurocognitive functioning, we created a cohort of patients diagnosed with early onset Stargardt disease (OMIM #248200). Early onset Stargardt disease, presenting between 5 and 10 years, is associated with a similarly rapid loss of vision and was therefore considered a valid control group (Lambertus et al 2015). …”

Section: Methodsmentioning

confidence: 99%

Timing of cognitive decline in CLN3 disease

Kuper

Alfen

Rigterink

et al. 2018

J of Inher Metab Disea

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BackgroundCLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but casuistic reports question this paradigm. The aim of our study is to delineate timing of cognitive decline in CLN3 disease.MethodsEarly neurocognitive functioning in CLN3 disease was analyzed using age at onset of visual and cognitive decline and IQ scores from literature-derived patient descriptions, supplemented with IQ scores and school history from a retrospective referral center cohort. We analyzed protracted and classical CLN3 separately and added a control group of patients diagnosed with juvenile onset macular degeneration (early onset Stargardt disease) to control for possible effects of rapid vision loss on neurocognitive functioning.ResultsOnset of cognitive decline at a mean age of 6.8 years (range 2–13 years, n = 19) paralleled onset of visual deterioration at a mean age of 6.4 years (range 4–9 years, n = 81) as supported by an early decline in IQ scores in classical CLN3 disease. Onset and course of vision loss was similar in patients with protracted CLN3. The decreased IQ levels at diagnosis (mean 68.4, range 57–79, n = 9) in the referral cohort were consistently associated with an aberrant early school history contrasting normal school history and cognition in Stargardt disease patients.ConclusionsCognitive dysfunction is universally present around diagnosis in classical CLN3 disease.Electronic supplementary materialThe online version of this article (10.1007/s10545-018-0143-x) contains supplementary material, which is available to authorized users.

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Section: Methodsmentioning

confidence: 99%

Timing of cognitive decline in CLN3 disease

Kuper

Alfen

Rigterink

et al. 2018

J of Inher Metab Disea

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“…5 13 18 19 Onset is most commonly in childhood, with the next peak being early adulthood, and least frequently in later adulthood, with a better prognosis generally associated with a later onset 23 5 7 13 15 16 19 There is slow progressive loss of retinal function and structure over time; however, there is marked variability both within and between families, suggesting that other important factors influence phenotype, including genetic modifiers and the environment 1215 16 20 21…”

Section: Introductionmentioning

confidence: 99%

“…5 7 There is increasing evidence that onset relates to the severity of the underlying ABCA4 variants, with childhood-onset STGD1 being associated with more deleterious variants (including nonsense variants) compared with adult-onset or the later onset ‘foveal-sparing’ (FS) STGD1 (more frequently, missense variants) 37 15 16 27 Initially, ophthalmoscopy can reveal a normal fundus or mild retinal abnormalities (including loss of foveal reflex or mild RPE disturbance) with or without vision loss 516 The diagnosis can thereby be delayed unless retinal imaging with fundus autofluorescence (FAF) or spectral-domain optical coherence tomography (SD-OCT) and/or electrophysiological assessment (including pattern, full-field and multifocal electroretinography) are undertaken 3.…”

Section: Introductionmentioning

confidence: 99%

“…36 FAF has superseded fundus fluorescein angiography (FFA) in the diagnosis of STGD1, which was previously used to identify the ‘dark choroid’ observed in STGD1 due to blockage of underlying choroidal fluorescence by RPE-laden lipofuscin;7 though, not all patients have a dark choroid 18. Given that STGD1 is characterised by abnormal levels of lipofuscin, FAF imaging may identify fundus changes (early atrophy/flecks/dots) before they are clinically evident on ophthalmoscopy 3…”

Section: Introductionmentioning

confidence: 99%

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Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

et al. 2016

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Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and genotypic characteristics of the disease, conventional and novel imaging findings, current knowledge of animal models and pathogenesis, and the multiple avenues of intervention being explored.

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“…Generally speaking, early-onset progresses to lower final acuity (20/200) 27; 28 ; later onset has a better prognosis, and foveal structure and function may be preserved. 29; 30; 31 …”

Section: Stargardt Diseasementioning

confidence: 99%

Juvenile Macular Degenerations

Altschwager

Ambrosio

Swanson

et al. 2017

Seminars in Pediatric Neurology

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In this paper we review three common juvenile macular degenerations: Stargardt disease, X-linked retinoschisis, and Best vitelliform macular dystrophy. These are inherited disorders that typically present during childhood, when vision is still developing. They are sufficiently common that they should be included in the differential diagnosis of visual loss in pediatric patients. Diagnosis is secured by a combination of clinical findings, optical coherence tomography (OCT) imaging, and genetic testing. Early diagnosis promotes optimal management. While there is currently no definitive cure for these conditions, therapeutic modalities under investigation include pharmacologic treatment, gene therapy, and stem cell transplantation.

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Early-Onset Stargardt Disease

Cited by 129 publications

References 41 publications

Timing of cognitive decline in CLN3 disease

Timing of cognitive decline in CLN3 disease

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

Juvenile Macular Degenerations

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