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4 results on '"P. Carelli"'

1. Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements.

Author

Carbonelli, Michele, La Morgia, Chiara, Savini, Giacomo, Cascavilla, Maria Lucia, Borrelli, Enrico, Chicani, Filipe, do V F Ramos, Carolina, Salomao, Solange R, Parisi, Vincenzo, Sebag, Jerry, Bandello, Francesco, Sadun, Alfredo A, Carelli, Valerio, and Barboni, Piero

Subjects
Nerve Fibers, Optic Nerve, Retina, Humans, Optic Atrophy, Hereditary, Leber, Optic Atrophy, Autosomal Dominant, Radiography, Tomography, Optical Coherence, Prevalence, Case-Control Studies, Demography, Visual Acuity, Algorithms, Adult, Middle Aged, Female, Male, Optic Atrophy, Hereditary, Leber, Autosomal Dominant, Tomography, Optical Coherence, General Science & Technology
Abstract

PurposeTo investigate the thickness of the retinal layers and to assess the prevalence of macular microcysts (MM) in the inner nuclear layer (INL) of patients with mitochondrial optic neuropathies (MON).MethodsAll patients with molecularly confirmed MON, i.e. Leber's Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), referred between 2010 and 2012 were enrolled. Eight patients with MM were compared with two control groups: MON patients without MM matched by age, peripapillary retinal nerve fiber layer (RNFL) thickness, and visual acuity, as well as age-matched controls. Retinal segmentation was performed using specific Optical coherence tomography (OCT) software (Carl Zeiss Meditec). Macular segmentation thickness values of the three groups were compared by one-way analysis of variance with Bonferroni post hoc corrections.ResultsMM were identified in 5/90 (5.6%) patients with LHON and 3/58 (5.2%) with DOA. The INL was thicker in patients with MON compared to controls regardless of the presence of MM [133.1±7μm vs 122.3±9μm in MM patients (p

Published
2015

2. Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements

Author

Carbonelli, Michele, La Morgia, Chiara, Savini, Giacomo, Cascavilla, Maria Lucia, Borrelli, Enrico, Chicani, Filipe, do V. F. Ramos, Carolina, Salomao, Solange R, Parisi, Vincenzo, Sebag, Jerry, Bandello, Francesco, Sadun, Alfredo A, Carelli, Valerio, and Barboni, Piero

Subjects
Clinical Research, Neurodegenerative, Eye Disease and Disorders of Vision, Rare Diseases, Neurosciences, Aging, Eye, Adult, Algorithms, Case-Control Studies, Demography, Female, Humans, Male, Middle Aged, Nerve Fibers, Optic Atrophy, Autosomal Dominant, Optic Atrophy, Hereditary, Leber, Optic Nerve, Prevalence, Radiography, Retina, Tomography, Optical Coherence, Visual Acuity, General Science & Technology
Abstract

PurposeTo investigate the thickness of the retinal layers and to assess the prevalence of macular microcysts (MM) in the inner nuclear layer (INL) of patients with mitochondrial optic neuropathies (MON).MethodsAll patients with molecularly confirmed MON, i.e. Leber's Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), referred between 2010 and 2012 were enrolled. Eight patients with MM were compared with two control groups: MON patients without MM matched by age, peripapillary retinal nerve fiber layer (RNFL) thickness, and visual acuity, as well as age-matched controls. Retinal segmentation was performed using specific Optical coherence tomography (OCT) software (Carl Zeiss Meditec). Macular segmentation thickness values of the three groups were compared by one-way analysis of variance with Bonferroni post hoc corrections.ResultsMM were identified in 5/90 (5.6%) patients with LHON and 3/58 (5.2%) with DOA. The INL was thicker in patients with MON compared to controls regardless of the presence of MM [133.1±7μm vs 122.3±9μm in MM patients (p

Published
2015

3. Secondary post-geniculate involvement in Leber's hereditary optic neuropathy.

Author

Rizzo, Giovanni, Tozer, Kevin R, Tonon, Caterina, Manners, David, Testa, Claudia, Malucelli, Emil, Valentino, Maria Lucia, La Morgia, Chiara, Barboni, Piero, Randhawa, Ruvdeep S, Ross-Cisneros, Fred N, Sadun, Alfredo A, Carelli, Valerio, and Lodi, Raffaele

Subjects
Neurons, Nerve Fibers, Optic Nerve, Humans, Optic Atrophy, Hereditary, Leber, Atrophy, Phenylenediamines, DNA, Mitochondrial, Magnetic Resonance Imaging, Diffusion Magnetic Resonance Imaging, Brain Mapping, Case-Control Studies, Diffusion, Heterozygote, Mutation, Image Processing, Computer-Assisted, Adult, Aged, Middle Aged, Female, Male, Vision, Ocular, DNA, Mitochondrial, Image Processing, Computer-Assisted, Optic Atrophy, Hereditary, Leber, Vision, Ocular, General Science & Technology
Abstract

Leber's hereditary optic neuropathy (LHON) is characterized by retinal ganglion cell (RGC) degeneration with the preferential involvement of those forming the papillomacular bundle. The optic nerve is considered the main pathological target for LHON. Our aim was to investigate the possible involvement of the post-geniculate visual pathway in LHON patients. We used diffusion-weighted imaging for in vivo evaluation. Mean diffusivity maps from 22 LHON visually impaired, 11 unaffected LHON mutation carriers and 22 healthy subjects were generated and compared at level of optic radiation (OR). Prefrontal and cerebellar white matter were also analyzed as internal controls. Furthermore, we studied the optic nerve and the lateral geniculate nucleus (LGN) in post-mortem specimens obtained from a severe case of LHON compared to an age-matched control. Mean diffusivity values of affected patients were higher than unaffected mutation carriers (P

Published
2012

4. Secondary Post-Geniculate Involvement in Leber’s Hereditary Optic Neuropathy

Author

Rizzo, Giovanni, Tozer, Kevin R, Tonon, Caterina, Manners, David, Testa, Claudia, Malucelli, Emil, Valentino, Maria Lucia, La Morgia, Chiara, Barboni, Piero, Randhawa, Ruvdeep S, Ross-Cisneros, Fred N, Sadun, Alfredo A, Carelli, Valerio, and Lodi, Raffaele

Subjects
Clinical Research, Eye Disease and Disorders of Vision, Neurosciences, Neurodegenerative, Neurological, Adult, Aged, Atrophy, Brain Mapping, Case-Control Studies, DNA, Mitochondrial, Diffusion, Diffusion Magnetic Resonance Imaging, Female, Heterozygote, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Nerve Fibers, Neurons, Optic Atrophy, Hereditary, Leber, Optic Nerve, Phenylenediamines, Vision, Ocular, General Science & Technology
Abstract

Leber's hereditary optic neuropathy (LHON) is characterized by retinal ganglion cell (RGC) degeneration with the preferential involvement of those forming the papillomacular bundle. The optic nerve is considered the main pathological target for LHON. Our aim was to investigate the possible involvement of the post-geniculate visual pathway in LHON patients. We used diffusion-weighted imaging for in vivo evaluation. Mean diffusivity maps from 22 LHON visually impaired, 11 unaffected LHON mutation carriers and 22 healthy subjects were generated and compared at level of optic radiation (OR). Prefrontal and cerebellar white matter were also analyzed as internal controls. Furthermore, we studied the optic nerve and the lateral geniculate nucleus (LGN) in post-mortem specimens obtained from a severe case of LHON compared to an age-matched control. Mean diffusivity values of affected patients were higher than unaffected mutation carriers (P

Published
2012

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