Hernández-Martínez, Nancy González-Del Angel, Ariadna Alcántara-Ortigoza, Miguel Angel González-Huerta, Luz M Cuevas-Covarrubias, Sergio A Villanueva-Mendoza, Cristina
Published in
Ophthalmic genetics
Anterior segment dysgenesis (ASD) and Axenfeld-Rieger spectrum (ARS) are mainly due to PITX2 and FOXC1 defects, but it is difficult in some patients to differentiate among PITX2-, FOXC1-, PAX6- and CYP1B1-related disorders. Here, we set out to characterize the pathogenic variants (PV) in PITX2, FOXC1, CYP1B1 and PAX6 in nine unrelated Mexican ARS/A...
Pesenti, Faye Doucet, Erica Morin, Charles Falcao, Marcele
Published in
Ophthalmic genetics
Leigh syndrome, French Canadian type is a rare neurodegenerative disease. To our knowledge, there have been no studies based on ocular findings published for this disease. The purpose of this study is to describe ophthalmic findings in these patients. Six patients genetically identified as having the syndrome were included in this study. Four patie...
Miraldi Utz, Virginia Coussa, Razek Georges Antaki, Fares Traboulsi, Elias I
Published in
Ophthalmic genetics
Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (LCA 2), and can also result in phenotypes described as severe early childhood onset retinal dystroph...
Elnahry, Ayman G Hassan, Fatma K Abdel-Kader, Ahmed A
Published in
Ophthalmic genetics
Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by chorioretinal atrophy due to deficiency of the enzyme ornithine aminotransferase that can be complicated by intraretinal cystic spaces. A 15-year-old female complaining of gradually progressive diminution of vision in both eyes preceded by night blindn...
Aldrees, Alanoud Abdelkader, Ehab Al-Habboubi, Hussain Alrwebah, Huda Rahbeeni, Zuhair Schatz, Patrik
Published in
Ophthalmic genetics
Mucciolo, Dario Pasquale Sodi, Andrea Passerini, Ilaria Murro, Vittoria Cipollini, Francesca Borg, Isabella Pelo, Elisabetta Contini, Elisa Virgili, Gianni Rizzo, Stanislao
...
Published in
Ophthalmic genetics
to report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations. we retrospectively reviewed the clinical records and the molecular genetic data of arRP patients carrying mutations in the EYS gene. All the patients underwent a comprehensive opthalmological examination....
Takahashi, Vitor K L Takiuti, Júlia T Jauregui, Ruben Lima, Luiz H Tsang, Stephen H
Published in
Ophthalmic genetics
To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width. Fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT) images were obtained from seven...
Mourits, Daphne L Mourits, Maarten P Kloos, Roel J H M Tan, H Stevie Moll, Annette C Hartong, Dyonne T
Published in
Ophthalmic genetics
Cosmetic dissatisfaction, pain, and chronic discharge may present months till years after enucleation in patients operated because of retinoblastoma. If noninvasive treatment modalities are insufficient, socket reconstruction can be considered. In this study, we discuss the results of dermis-fat exchange to treat these problems. Four patients with ...
Federspiel, Cecilie Aalund Bertelsen, Mette Kessel, Line
Published in
Ophthalmic genetics
High intake of vitamin A is suspected to be a risk factor for the progression of Stargardt disease (STGD1) and many health authorities recommend Stargardt patients not to use oral vitamin A supplements outside that provided naturally in the food. The present study provides the first systematic review of the current level of evidence regarding the r...
Zhang, Shanshan Li, Jie Li, Shujin Yang, Yeming Yang, Mu Yang, Zhenglin Zhu, Xianjun Zhang, Lin
Published in
Ophthalmic genetics
Retinitis pigmentosa (RP) is a genetically heterogeneous disease with over 70 causative genes identified to date. However, approximately 40% of RP cases remain genetically unsolved, suggesting that many novel disease-causing mutations are yet to be identified. The purpose of this study is to identify the causative mutations of a Chinese RP family. ...
