The case of a 50-year-old female patient with autosomal dominant optic atrophy is described, which was initially misinterpreted and treated as normal pressure glaucoma. Bilateral partial optic atrophy can be diagnosed by chance with mild manifestation of symptoms and can initially be misinterpreted as glaucoma. Taking a detailed medical history and performing a thorough optic nerve head examination can raise the suspicion of hereditary optic atrophy. The reliable detection of autosomal dominant optic atrophy by genetic investigations should be strived for in such cases.
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http://dx.doi.org/10.1007/s00347-016-0407-5 | DOI Listing |
Ophthalmol Sci
November 2024
Division of Ophthalmology Informatics and Data Science, Viterbi Family Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, La Jolla, California.
Purpose: The aim is to assess GPT-4V's (OpenAI) diagnostic accuracy and its capability to identify glaucoma-related features compared to expert evaluations.
Design: Evaluation of multimodal large language models for reviewing fundus images in glaucoma.
Subjects: A total of 300 fundus images from 3 public datasets (ACRIMA, ORIGA, and RIM-One v3) that included 139 glaucomatous and 161 nonglaucomatous cases were analyzed.
J Cell Biol
April 2025
Department of Genetics and Cell Biology, College of Life Sciences, State Key Laboratory of Medicinal Chemical Biology, Nankai University, Tianjin, China.
TBC1D20 deficiency causes Warburg Micro Syndrome in humans, characterized by multiple eye abnormalities, severe intellectual disability, and abnormal sexual development, but the molecular mechanisms remain unknown. Here, we identify TBC1D20 as a novel Rab11 GTPase-activating protein that coordinates vesicle transport and actin remodeling to regulate ciliogenesis. Depletion of TBC1D20 promotes Rab11 vesicle accumulation and actin deconstruction around the centrosome, facilitating the initiation of ciliogenesis even in cycling cells.
View Article and Find Full Text PDFMedicina (Kaunas)
December 2024
Clinic for Eye Disease, University Clinical Center of Serbia, 11000 Belgrade, Serbia.
. Leber hereditary optic neuropathy (LHON) is a condition characterized by bilateral acute or subacute vision loss in seemingly healthy individuals. Depending on the disease stage and initial presentation, it is often diagnosed as optic neuritis.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant :m.15309T>C (Ile188Thr). We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Background/objectives: A heterozygous mutation in the gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy and/or diabetes mellitus. However, detailed clinical features for the patients with the heterozygous p.A684V variant remain unknown.
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