The Golden Tapetal Sheen Reflex in Retinal Disease

Noble, Kenneth G.; Margolis, Sheila; Carr, Ronald E.

doi:10.1016/0002-9394(89)90302-4

Cited by 17 publications

(4 citation statements)

References 8 publications

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“…However, previous fluorescein angiography studies showed no abnormalities in the areas of the TLR 18. It has been suggested that the TLR could be the result of deposits, thickening, or degeneration in Bruch's membrane, deposits in the retina, or an alteration at the level of RPE-photoreceptor interface.…”

Section: Discussionmentioning

confidence: 93%

Structural and Functional Characteristics in Carriers of X-Linked Retinitis Pigmentosa With a Tapetal-Like Reflex

Genead

Fishman

Lindeman

2010

Retina

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Purpose-to identify the functional and structural characteristics in three female obligate carriers of X-linked retinitis pigmentosa (XLRP) from the same family by using spectral-domain OCT (SD-OCT), fundus autofluorescence (FAF), and microperimetry (MP).Methods-Three female obligate carriers with a tapetal-like reflex (TLR), 21, 49, and 57 years of age, from a single family of XLRP that was seen in the ophthalmology department at the University of Illinois at Chicago, were enrolled in the study.All carriers underwent a complete ophthalmic examination. SD-OCT measurements, a macular MP exam, and FAF testing were performed.Results-The SD-OCT exam in all three carriers showed a normal retinal micro-structure and thickness. Microperimeter testing showed subnormal retinal sensitivity in the areas of the TLR. FAF exam showed the presence of speckled areas of enhanced AF.Conclusions-Our study demonstrates that the carriers of XLRP with a TLR can show an enhanced reflectance on infrared images, abnormal autofluorescence properties, elevated retinal thresholds, and a normal retinal morphology within the posterior pole on SD-OCT testing

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Section: Discussionmentioning

confidence: 93%

Structural and Functional Characteristics in Carriers of X-Linked Retinitis Pigmentosa With a Tapetal-Like Reflex

Genead

Fishman

Lindeman

2010

Retina

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“…Tapetal-like metallic reflex of the fundus is usually associated with Oguchi disease and fundus albipunctatus due to excessive extracellular K + released from the activated neurons [ 30 ]. It is rarely seen in retinoschisis and its functional significance is not fully understood [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Neriyanuri

Sachidanandam²,

Mamatha

et al. 2018

PLoS ONE

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X-linked retinoschisis (XLRS) is a retinal degenerative disorder caused by mutations in RS1 gene leading to splitting of retinal layers (schisis) which impairs visual signal processing. Retinoschisin (RS1) is an adhesive protein which is secreted predominantly by the photoreceptors and bipolar cells as a double-octameric complex. In general, XLRS patients show wide clinical heterogeneity, presenting practical challenges in disease management. Though researchers have attempted various approaches to offer an explanation for clinical heterogeneity, the molecular basis has not been understood yet. Therefore, this study aims at establishing a link between the phenotype and genotype based on the molecular mechanism exerted by the mutations. Twenty seven XLRS patients were enrolled, of which seven harboured novel mutations. The mutant constructs were genetically engineered and their secretion profiles were studied by in vitro cell culture experiments. Based on the secretory profile, the patients were categorized as either secreted or non-secreted group. Various clinical parameters such as visual acuity, location of schisis, foveal thickness and ERG parameters were compared between the two groups and control. Although the two groups showed severe disease phenotype in comparison with control, there was no significant difference between the two XLRS groups. However, the secreted group exhibited relatively severe disease indications. On the other hand molecular analysis suggests that most of the RS1 mutations result in intracellular retention of retinoschisin. Hence, clinical parameters of patients with non-secreted profile were analyzed which in turn revealed wide variability even within the group. Altogether, our results indicate that disease severity is not merely dependent on secretory profile of the mutations. Thus, we hypothesize that intricate molecular detail such as the precise localization of mutant protein in the cell as well as its ability to assemble into a functionally active oligomer might largely influence disease severity among XLRS patients.

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“…The differential diagnosis includes several entities that can present with fundus color change in light and dark adaptation: X-linked recessive 1,2 and dominant cone dystrophy, 3 Oguchi disease, 4 and X-linked juvenile retinoschisis. 5…”

Section: Differential Diagnosismentioning

confidence: 99%

A 34-year-old man with visual complaints and a tapetal-like reflex

Ribeiro

Chiu

Ament

et al. 2008

DJO

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HistoryA 34-year-old man presented to the emergency room complaining of forehead pain. He lost consciousness temporarily and fell while urinating the day before and was seen at the Massachusetts General Hospital. Different etiologies for syncope, including cardiac and noncardiac causes, were ruled out.He had poor vision in the right eye since childhood, which he attributed to trauma. His brother also had a history of poor vision. The patient had no other significant medical history.

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The Golden Tapetal Sheen Reflex in Retinal Disease

Cited by 17 publications

References 8 publications

Structural and Functional Characteristics in Carriers of X-Linked Retinitis Pigmentosa With a Tapetal-Like Reflex

Structural and Functional Characteristics in Carriers of X-Linked Retinitis Pigmentosa With a Tapetal-Like Reflex

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

A 34-year-old man with visual complaints and a tapetal-like reflex

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