Robson Anthony G

Calcagni Antonio, Neveu Magella M, Jurkute Neringa, Robson Anthony G

This review details visual electrodiagnostic tests (VEP, ERG) for diagnosing and differentiating optic neuropathies from retinal disorders, and phenotyping various acquired and inherited visual pathway diseases.

Fujinami-Yokokawa Yu, Joo Kwangsic, Liu Xiao, Tsunoda Kazushige, Kondo Mineo, Ahn Seong Joon et al.

This study found two RP1L1 gene hotspots cause distinct Miyake disease phenotypes: p.R45W leads to earlier, more severe vision loss, while 1196-1201aa causes a milder form, aiding prognosis and treatment.

Lyons Christopher J, Robson Anthony G

Hull Sarah, Arno Gavin, Ku Cristy A, Ge Zhongqi, Waseem Naushin, Chandra Aman et al.

This study expanded Knobloch syndrome findings, revealing new features like pigment dispersion and glaucoma, cone-rod dysfunction, and normal neuroradiology in some, aiding early diagnosis and management.

Arya Bharti, Westcott Mark, Robson Anthony G, Holder Graham E, Pavesio Carlos

PLR analysis detected visual field loss in birdshot chorioretinopathy despite stable mean deviation and ERG. This highlights PLR's role for monitoring disease progression and guiding treatment in BCR.

Dev Borman Arundhati, Ocaka Louise A, Mackay Donna S, Ripamonti Caterina, Henderson Robert H, Moradi Phillip et al.

LRAT gene mutations cause severe, progressive early-onset retinal dystrophy. Its similarity to RPE65-related disease suggests potential responsiveness to novel therapies.

Lenassi Eva, Robson Anthony G, Hawlina Marko, Holder Graham E

Studying large-field PERG alongside standard PERG in patients, researchers found it improved detection of macular dysfunction, distinguished its extent, and clarified macular health in optic nerve disease, enhancing routine clinical assessment.