Clinical electrophysiology of the optic nerve and retinal ganglion cells
OR Marmoy, S Viswanathan - Eye, 2021 - nature.com
Clinical electrophysiological assessment of optic nerve and retinal ganglion cell function can
be performed using the Pattern Electroretinogram (PERG), Visual Evoked Potential (VEP) …
be performed using the Pattern Electroretinogram (PERG), Visual Evoked Potential (VEP) …
The electroretinogram in the genomics era: outer retinal disorders
The inherited retinal diseases (IRDs) have traditionally been described phenotypically with
the description evolving to incorporate more sophisticated structural and functional …
the description evolving to incorporate more sophisticated structural and functional …
[HTML][HTML] CRB1-associated retinal dystrophies: genetics, clinical characteristics, and natural history
MD Varela, M Georgiou, Y Alswaiti, J Kabbani… - American Journal of …, 2023 - Elsevier
PURPOSE To analyze the clinical characteristics, natural history, and genetics of CRB1-
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …
A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations
PURPOSE: To investigate the clinical and electrophysiologic natural history of Stargardt
disease and correlate with the genotype. DESIGN: Cohort study of 59 patients. METHODS …
disease and correlate with the genotype. DESIGN: Cohort study of 59 patients. METHODS …
[HTML][HTML] The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy
Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of
central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive …
central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive …
[HTML][HTML] WFS1-associated optic neuropathy: genotype-phenotype correlations and disease progression
OBJECTIVE To evaluate the pattern of vision loss and genotype-phenotype correlations in
WFS1-associated optic neuropathy (WON). DESIGN Multicenter cohort study. METHODS …
WFS1-associated optic neuropathy (WON). DESIGN Multicenter cohort study. METHODS …
Clinical characterization of CNGB1-related autosomal recessive retinitis pigmentosa
Importance There are limited published data on the phenotype of retinitis pigmentosa (RP)
related toCNGB1variants. These data are needed both for prognostic counseling of patients …
related toCNGB1variants. These data are needed both for prognostic counseling of patients …
Clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy
Background To report clinical and electrophysiology findings in Slovene patients with Leber
hereditary optic neuropathy (LHON). Methods Eight patients with LHON (11–26 years; one …
hereditary optic neuropathy (LHON). Methods Eight patients with LHON (11–26 years; one …
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa
MN Muthiah, A Kalitzeos, K Oprych, N Singh… - British Journal of …, 2022 - bjo.bmj.com
Aim To describe the clinical and molecular features of a novel, autosomal dominant RDH12-
retinopathy. Methods Retrospective cross-sectional study. Twelve individuals from a four …
retinopathy. Methods Retrospective cross-sectional study. Twelve individuals from a four …
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C …
ER Schiff, M Daich Varela, AG Robson… - American Journal of …, 2020 - Wiley Online Library
Pathogenic variants in the gene HGSNAT (heparan‐α‐glucosaminide N‐acetyltransferase)
have been reported to underlie two distinct recessive conditions, depending on the specific …
have been reported to underlie two distinct recessive conditions, depending on the specific …