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View article: A Novel Variant in <scp><i>TUBB4B</i></scp> Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss
A Novel Variant in <span><i>TUBB4B</i></span> Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss Open
Background Sensorineural hearing loss (SNHL) is a frequent manifestation of syndromic inherited retinal diseases (IRDs), exemplified by the very rare form of autosomal‐dominant Leber congenital amaurosis with early onset deafness (LCAEOD; …
View article: Pericentral Retinitis Pigmentosa is associated with a high prevalence of USH2A pathogenic variants in an Italian cohort of patients
Pericentral Retinitis Pigmentosa is associated with a high prevalence of USH2A pathogenic variants in an Italian cohort of patients Open
View article: A novel mutation in PEX1 gene causes an Usher-like Syndrome with early onset of Retinitis Pigmentosa and Sensorineural Hearing Loss
A novel mutation in PEX1 gene causes an Usher-like Syndrome with early onset of Retinitis Pigmentosa and Sensorineural Hearing Loss Open
View article: Evaluation of patients with Stargardt disease by Microperimetry and Fundus Autofluorescence: identification of a new biomarker in defining the natural history of disease
Evaluation of patients with Stargardt disease by Microperimetry and Fundus Autofluorescence: identification of a new biomarker in defining the natural history of disease Open
View article: Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy Open
We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense mitochondrial DNA (mtDNA) variants, affecting the MT-ND4, MT-ND4L and MT-ND6 subuni…
View article: The effects of oral carbonic anhydrase inhibitors in patients affected by X-linked Retinoschisis
The effects of oral carbonic anhydrase inhibitors in patients affected by X-linked Retinoschisis Open
View article: Comparison of en-face Optical Coherence Tomography and Fundus Autofluorescence for assessment of macular lesion area in Stargardt disease
Comparison of en-face Optical Coherence Tomography and Fundus Autofluorescence for assessment of macular lesion area in Stargardt disease Open
View article: A new syndromic form of retinal degeneration due to mutations in the PCYT1A gene
A new syndromic form of retinal degeneration due to mutations in the PCYT1A gene Open