Results 21 to 30 of about 1,021 (239)

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy [PDF]

Journal of Ophthalmic & Vision Research
Purpose: Gyrate atrophy of the choroid and retina (GACR) is a rare congenital disorder and mutations in the ornithine aminotransferase (OAT) gene has been specified as the underlying cause. Patients show a high level of ornithine in body fluids which may
Samira Molaei Ramshe, Safoura Zardadi, Elham Alehabib, Ramin Nourinia, Javad Jamshidi, Mohsen Soosanabadi, Hossein Darvish   +6 more
doaj   +2 more sources

Three siblings with gyrate atrophy of the choroid and retina: a case report [PDF]

International Journal of Ophthalmology, 2023
Maamouri Rym, Ferchichi Molka, Ben Chehida Amel, Hadj-Taieb Sameh, Cheour Monia   +4 more
doaj   +2 more sources

A rare case of Gyrate atrophy

Journal of Bahria University Medical and Dental College, 2011
Gyrate atrophy is rarely seen in ophthalmological practice. We diagnosed one such case in our set-up. A middle-aged male presented with decreased vision FUndus showed patches of well-demarcated.
Muhammad Waseem, Saquib Naeem, M Saleem Bajwa   +2 more
doaj   +1 more source

Bilateral macular hole in gyrate atrophy: A rare association

Indian Journal of Ophthalmology, 2020
Deepika C Parameswarappa, Komal Agarwal
doaj   +2 more sources

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy [PDF]

Ophthalmic Genetics, 2018
Xuan Cui, Ruben Jáuregui, Karen Sophia Park   +2 more
exaly   +2 more sources

Gyrate Atrophy and Choroidal Neovascularization [PDF]

Archives of Ophthalmology, 1996
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Marano, F., Deutman, A.F., Pinckers, A.J.L.G., Aandekerk, A.L.   +3 more
openaire   +3 more sources

Optical coherence tomography angiography of astrocytic hamartoma demonstrates intrinsic vascularity

American Journal of Ophthalmology Case Reports, 2020
Purpose: To evaluate the findings of astrocytic hamartoma in the setting of gyrate atrophy, including details of optical coherence tomography angiography (OCTA).
Ryan N. Vogel, T.Y. Alvin Liu, Mandeep S. Singh, Morton F. Goldberg   +3 more
doaj   +1 more source

Double macular hole with gyrate atrophy: A long-term postoperative follow-up

Journal of Clinical Ophthalmology and Research, 2022
A 55-year-old female presented with diminution of vision, night blindness, and gyrate atrophy with “double macular hole” in the left eye. Spectral-domain optical coherence tomography of the left eye showed coexisting full thickness and lamellar macular ...
Paurnima Ulhas Bodhankar, Ajit Kamalakar Joshi, Abhinandan N Patil   +2 more
doaj   +1 more source

Ultra-wide field imaging of an operated macular hole in gyrate atrophy [PDF]

Journal of Ophthalmic & Vision Research, 2016
Koushik Tripathy, Yog Raj Sharma, Rohan Chawla, Shreyans Jain, Alkananda Behera   +4 more
doaj   +2 more sources

Gyrate Atrophy

Güncel Retina Dergisi (Current Retina Journal), 2021
Gyrate Atrophy is an autosomal recessively inherited rare disease of the choroid and retina. Deficiency of ornithine aminotransferase enzyme (OAT) leads to 10 to 20 times ornithine levels in plasma which is thought to be the cause for the ocular findings.
openaire   +1 more source