Retinal Morphological Changes of Patients With X-linked Retinoschisis Evaluated by Fourier-Domain Optical Coherence Tomography

Gerth, Christina; Zawadzki, Robert J.; Werner, John S.; Hèon, Elise

doi:10.1001/archopht.126.6.807

Cited by 65 publications

(39 citation statements)

References 26 publications

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“…5). 78 In particular, HH-SDOCT has been shown to be very helpful in identifying the etiology of infantile nystagmus syndrome (INS) (a heterogeneous group of disorders, for which there are multiple causes with different prognoses). 16,79 A HH-SDOCT diagnostic algorithm has been developed that streamlines the investigation of infants and young children with nystagmus.…”

Section: Retinal Dystrophies Dysplasias and Infantile Nystagmusmentioning

confidence: 99%

Pediatric Optical Coherence Tomography in Clinical Practice—Recent Progress

Lee

Proudlock

Gottlob

2016

Invest. Ophthalmol. Vis. Sci.

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Citation: Lee H, Proudlock FA, Gottlob I. Pediatric optical coherence tomography in clinical practice-recent progress. Invest Ophthalmol Vis Sci. 2016;57:OCT69-OCT79. DOI:10.1167/iovs.15-18825 PURPOSE. Optical coherence tomography (OCT) has revolutionized the diagnosis and management of adult retinal and optic nerve disease. Children were deprived of this technology until the recent development of handheld spectral-domain OCT (HH-SDOCT). In this article, we review the applications of OCT imaging in pediatric ophthalmology.METHODS. This study was a review of the literature.RESULTS. The acquisition and interpretation of pediatric tomograms differ significantly from those for adults, with adjustments needed to account for the shorter axial lengths, higher refractive errors, and ongoing retinal and optic nerve development in the pediatric eye. Handheld SDOCT is increasingly being used as an adjunctive diagnostic tool in retinopathy of prematurity (ROP) and nonaccidental injury (NAI) by providing additional morphologic information that is not normally clinically discernible. The role of HH-SDOCT in streamlining diagnosis in infantile nystagmus syndrome, retinal dystrophies, and degenerations has been established. Optical coherence tomography can also help differentiate between pediatric intraocular tumors, for example, hamartomas and retinoblastoma; monitor tumor progression; and monitor treatment response. In addition, HH-SDOCT is establishing its role as a noninvasive monitoring tool in children affected by optic nerve pathology such as glaucoma, optic nerve atrophy and hypoplasia, optic pathway glioma, and pseudotumor cerebri. CONCLUSIONS.Handheld SDOCT can provide novel insights into the natural history of retinal and optic nerve diseases in young children. For example, in achromatopsia and albinism, in vivo OCT studies have provided evidence of altered but ongoing retinal development in early childhood, which suggests that potentially targeting treatment at an earlier age may optimize visual function by normalizing retinal development.

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Section: Retinal Dystrophies Dysplasias and Infantile Nystagmusmentioning

confidence: 99%

Pediatric Optical Coherence Tomography in Clinical Practice—Recent Progress

Lee

Proudlock

Gottlob

2016

Invest. Ophthalmol. Vis. Sci.

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“…With regard to the inner hyporeflective cavities, there may be a loss of retinal structural integrity possibly similar to X-linked retinoschisis. In the absence of a bullous central retinal schisis, OCT findings in Xlinked retinoschisis may actually resemble those in MacTel type 2 (Gerth et al, 2008;Gregori et al, 2009), and the respective knock-out mouse model reveals pathologic features reminiscent of MacTel type 2 (Weber et al, 2002).…”

Section: Understanding Clinical Findingsmentioning

confidence: 99%

Macular Telangiectasia Type 2

Heeren

Holz

Issa

2013

Microperimetry and Multimodal Retinal Imaging

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Macular telangiectasia type 2 is a bilateral disease of unknown cause with characteristic alterations of the macular capillary network and neurosensory atrophy. Its prevalence may be underestimated and has recently been shown to be as high as 0.1% in persons 40 years and older. Biomicroscopy may show reduced retinal transparency, crystalline deposits, mildly ectatic capillaries, blunted venules, retinal pigment plaques, foveal atrophy, and neovascular complexes. Fluorescein angiography shows telangiectatic capillaries predominantly temporal to the foveola in the early phase and a diffuse hyperfluorescence in the late phase. High-resolution optical coherence tomography (OCT) may reveal disruption of the photoreceptor inner segment-outer segment border, hyporeflective cavities at the level of the inner or outer retina, and atrophy of the retina in later stages. Macular telangiectasia type 2 shows a unique depletion of the macular pigment in the central retina and recent therapeutic trials showed that such depleted areas cannot re-accumulate lutein and zeaxanthin after oral supplementation. There have been various therapeutic approaches with limited or no efficacy. Recent clinical trials with compounds that block vascular endothelial growth factor (VEGF) have established the role of VEGF in the pathophysiology of the disease, but have not shown significant efficacy, at least for the nonneovascular disease stages. Recent progress in structure-function correlation may help to develop surrogate outcome measures for future clinical trials.In this review article, we summarize the current knowledge on macular telangiectasia type 2, including the epidemiology, the genetics, the clinical findings, the staging and the differential diagnosis of the disease. Findings using retinal imaging are discussed, including fluorescein angiography, OCT, adaptive optics imaging, confocal scanning laser ophthalmoscopy, and fundus autofluorescence, as are the findings using visual function testing including visual acuity and fundus-controlled microperimetry. We provide an overview of the therapeutic approaches for both non-neovascular and neovascular disease stages and provide a perspective of future directions including animal models and potential therapeutic approaches.

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“…Nas etapas precoces, nas atipias e nas formas avançadas, onde os fenômenos tardios confundem o diagnósti-co, o estudo genético e a OCT ou o analisador de espessura retiniana (RTA) revelam-se de especial importância (88)(89)(90)(91)(92)(93)(94) . Casos sem histórico familiar são onde mais se recomenda os testes genéticos (77,78,95) .…”

Section: Retinosquises Ligada Ao Xunclassified

“…Os estudos recentes nos doentes reconhecidos precocemente mostram que a extensão do dano retiniano é maior ao OCT ou RTA do que pelo padrão fundoscópico. Redução da espessura da camada de fibras nervosas é descrito em 62.5%, e 82% mostram cistos lamelares sem tradução oftalmoscópica (88)(89)(90)(91)(92)(93)(94)(95)(96)(97) . Observações pelo OCT permitem identificar certos fenotipos (ou fases diferentes da mesma doença): (a) foveosquises isolada, detectável clínica e tomograficamente (representando, provavelmente, doentes sem repercussão eletrofisiológica), (b) foveosquises + cistos lamelares periequatoriais (visíveis apenas pelo OCT) sem doença oftalmoscópica periférica, (c) foveosquises + cistos lamelares + doença periférica, e (d) foveosquises + doença periférica, sem achados lamelares (97) .…”

Section: Retinosquises Ligada Ao Xunclassified