Reduction in retinal nerve fiber layer thickness in tuberous sclerosis complex

Gialloreti, Leonardo Emberti; Moavero, Romina; Marciano, S.; Pardini, Matteo; Benassi, Francesca; Mutolo, Maria Giulia; Curatolo, Paolo

doi:10.1007/s00381-015-2702-x

Cited by 4 publications

(5 citation statements)

References 29 publications

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“…Our results showed RFNL thinning in the superior and inferior disc sectors of subjects with TS compared with healthy controls. Our findings agree with the work of Gialloreti et al [ 4 ], who also found RNFL thinning in TS patients. However, their study did not evaluate the macular measurements.…”

Section: Discussionsupporting

confidence: 94%

“…Aronow et al [ 11 ] demonstrated that RAHs are more likely to coexist with subependymal astrocytomas, renal angiomyolipomas, cognitive impairment, and epilepsy, underscoring the importance of accurately identifying RAH and retinal features in TS patients. While several studies have described retinal changes associated with RAH [ 12 – 15 ], the quantification of RNFL and macular thickness has been rarely explored [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…The CNS is almost invariably affected in TS. Magnetic resonance imaging (MRI) studies have revealed white matter (WM) changes therein, although these studies do not accurately clarify the extent of damage to the WM [ 4 ]. Neuropathological studies in individuals with TS have shown diffuse microstructural abnormalities in the WM, reflecting axonal disorganization, diminished or altered myelination, or gliosis [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

“…Neuropathological studies in individuals with TS have shown diffuse microstructural abnormalities in the WM, reflecting axonal disorganization, diminished or altered myelination, or gliosis [ 5 , 6 ]. However, there is still no clear information about whether there are defects in the axons that regulate neuronal networks [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

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Optical coherence tomography detection of retinal neural loss in patients with tuberous sclerosis

Dias,

Linhares,

Urzedo

et al. 2024

Int J Retin Vitr

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Purpose Tuberous Sclerosis (TS) is a rare, multisystem genetic disease caused by mutations in the TSC1 and TSC2 genes, leading to abnormalities in cell differentiation and proliferation. This study aimed to evaluate the neural integrity of individuals with TS by using Optical Coherence Tomography (OCT) to examine the peripapillary retinal nerve fiber layer (RNFL) thickness and the macular thickness in patients with TS and to compare with healthy controls. Methods Peripapillary and macular OCT scans (Optopol Revo NX SD OCT) were performed on 41 eyes from 22 TS patients, divided into two groups based on the presence of retinal hamartomas, and compared to 20 eyes from a control group. The average peripapillary RNFL thickness was measured for each quadrant. The macular total thickness and ganglion cell layer (GCL) + inner plexiform layer (IPL) thickness were measured based on the Early Treatment Diabetic Retinopathy Study (ETDRS) map. All measurements were then compared between the groups and controls. Results The TS group showed significantly reduced RNFL thickness and macular thickness when compared to the control group. Specifically, patients with retinal hamartomas exhibited an even more pronounced thinning of both RNFL and macular thickness. Conclusions These findings suggest that TS patients undergo significant changes in retinal neurodevelopment and experience axonal loss. This finding may have significant prognostic utility regarding central nervous system degeneration in TS, particularly among patients with retinal hamartomas. OCT may serve as a valuable tool for assessing axonal structural abnormalities in TS patients. Trial Registration Number: Not applicable.

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Section: Discussionsupporting

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Optical coherence tomography detection of retinal neural loss in patients with tuberous sclerosis

Dias,

Linhares,

Urzedo

et al. 2024

Int J Retin Vitr

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“…Bildmorphologisch ist der Befund zum Teil einem transparenten Astrozytom der Neuroretina [32] ähnlich oder aber auch einem nicht kalzifizierten, retinalen astrozytären Hamartom [33]. Die erworbenen retinalen Astrozytome (ARA) sind meistens endophytisch und ragen in den Glaskörperraum hinein, allerdings erscheinen sie funduskopisch gelblich und semitransparent, sind deutlich vaskularisiert, weisen selten Verkalkungen auf und können sporadisch, unabhängig von systemischen Erkrankungen auftreten [33].…”

Section: Spezifische Okuläre Symptome Der Nf2unclassified

Retinale astrozytäre Hamartome bei Neurofibromatose Typ 2 – Metaanalyse und Fallbericht

Starosta

Lorenz

2018

Klin Monatsbl Augenheilkd

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There is a large spectrum of ocular-specific findings in NF2. These are seminal, especially at an early age, enabling an early diagnosis and timely therapy of further tumor manifestations. Retinal astrocytic hamartomas may be very discreet and easily missed on routine examination. Fundus infrared imaging is a useful tool allowing to detect even discreet changes rarely seen by ophthalmoscopy in young children. This allows for a more extensive evaluation by SD-OCT.

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Molecular neurobiology of mTOR

et al. 2017

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Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that controls several important aspects of mammalian cell function. mTOR activity is modulated by various intra- and extracellular factors; in turn, mTOR changes rates of translation, transcription, protein degradation, cell signaling, metabolism, and cytoskeleton dynamics. mTOR has been repeatedly shown to participate in neuronal development and the proper functioning of mature neurons. Changes in mTOR activity are often observed in nervous system diseases, including genetic diseases (e.g., tuberous sclerosis complex, Pten-related syndromes, neurofibromatosis, and Fragile X syndrome), epilepsy, brain tumors, and neurodegenerative disorders (Alzheimer's disease, Parkinson's disease, and Huntington's disease). Neuroscientists only recently began deciphering the molecular processes that are downstream of mTOR that participate in proper function of the nervous system. As a result, we are gaining knowledge about the ways in which aberrant changes in mTOR activity lead to various nervous system diseases. In this review, we provide a comprehensive view of mTOR in the nervous system, with a special focus on the neuronal functions of mTOR (e.g., control of translation, transcription, and autophagy) that likely underlie the contribution of mTOR to nervous system diseases.

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Reduction in retinal nerve fiber layer thickness in tuberous sclerosis complex

Cited by 4 publications

References 29 publications

Optical coherence tomography detection of retinal neural loss in patients with tuberous sclerosis

Optical coherence tomography detection of retinal neural loss in patients with tuberous sclerosis

Retinale astrozytäre Hamartome bei Neurofibromatose Typ 2 – Metaanalyse und Fallbericht

Molecular neurobiology of mTOR

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