Article
Cell Biology
Leming Fu, Ya Li, Shun Yao, Qingge Guo, Ya You, Xianjun Zhu, Bo Lei
Summary: Novel compound heterozygous variants in ARL3 were associated with early onset autosomal recessive rod-cone dystrophy (RCD), while c.91A>G alone may be linked to late onset dominant cone-rod dystrophy (CRD). The two variants in ARL3 could potentially lead to pathogenicity by destabilizing the ARL3 protein and disrupting its interaction with RP2.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, Jose-Alain Sahel, Christina Zeitz, Isabelle Audo
Summary: This study aimed to investigate genotype-phenotype correlations in RPGR(ORF15)-related cone dystrophies (CDs) and cone-rod dystrophies (CRDs), with longitudinal data revealing a progressive decline in visual acuity and suggesting an optimal window for intervention in younger ages for future therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Ping Zhu, Frank Dyka, Xiaojie Ma, Ling Yin, Heather Yu, Wolfgang Baehr, William W. Hauswirth, Wen-Tao Deng
Summary: The missense mutations in red/green cone opsin genes have been shown to impact the structure, function, and localization of M-opsin, potentially resulting in damage and loss within cone cells.
Article
Biochemistry & Molecular Biology
Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valerie Pelletier, Beatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Said, Sabine Defoort-Dhellemmes, Jose-Alain Sahel, Helene Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Summary: Variants of the TTLL5 gene have been identified as a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). This study reports on five patients with biallelic variants of TTLL5, highlighting the importance of large deletions and suggesting that patients lacking variants in known genes may harbor CNVs to be discovered in TTLL5. Variable phenotypes in TTLL5-associated patients may be due to the presence of additional gene defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Ophthalmology
Isabelle Meunier, Beatrice Bocquet, Majida Charif, Claire-Marie Dhaenens, Gael Manes, Patrizia Amati-Bonneau, Agathe Roubertie, Xavier Zanlonghi, Guy Lenaers
Summary: Biallelic mutations in RTN4IP1 can lead to recessive optic atrophy and progress to rod-cone dystrophy, with potential accompanying neurological symptoms. Widefield autofluorescence frames and temporal macular scans are recommended for evaluating patients with optic neuropathies.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2021)
Article
Biochemistry & Molecular Biology
Vlasta Hadalin, Masa Buscarino, Jana Sajovic, Andrej Meglic, Martina Jarc-Vidmar, Marko Hawlina, Marija Volk, Ana Fakin
Summary: This study reports the genetic characteristics and long-term clinical follow-up of 18 Slovenian patients with retinitis pigmentosa GTPase regulator (RPGR) from 10 families. The results revealed known and novel variants associated with retinitis pigmentosa or cone/cone-rod dystrophy. The study provides important insights into the disease progression and visual outcomes among these patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Ophthalmology
Junwen Wang, Yingwei Wang, Shiqiang Li, Xueshan Xiao, Zhen Yi, Yi Jiang, Xueqing Li, Xiaoyun Jia, Panfeng Wang, Chenjin Jin, Wenmin Sun, Qingjiong Zhang
Summary: This study identified two distinct ocular phenotypes associated with biallelic variants in the RDH12 gene: early-onset and generalized retinal dystrophy, and late-onset cone-rod dystrophy with central macular atrophy. The presence of a hypomorphic allele was found to be responsible for the unique late-onset cone-rod dystrophy in five families with recessive RDH12-associated retinopathy. Patients with late-onset cone-rod dystrophy were relatively stable during follow-up and did not progress to the severe form.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Giancarlo Iarossi, Valerio Marino, Paolo Enrico Maltese, Leonardo Colombo, Fabiana D'Esposito, Elena Manara, Kristjana Dhuli, Antonio Mattia Modarelli, Gilda Cennamo, Adriano Magli, Daniele Dell'Orco, Matteo Bertelli
Summary: This study characterized five individuals from four Italian families with alterations in the RAB28 gene, resulting in a similar clinical phenotype. A novel missense variant was found to impair GTP binding affinity, leading to Rab-28 being in an inactive state.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Ophthalmology
Maria Pilar Martin-Gutierrez, Elena R. Schiff, Genevieve Wright, Naushin Waseem, Omar A. Mahroo, Michel Michaelides, Anthony T. Moore, Andrew R. Webster, Gavin Arno
Summary: This study investigated the association between RIMS1 gene and CORD7, and found that RIMS1 p.Arg820His is not a strong pathogenic factor for this condition. A known pathogenic variant in the PROM1 gene was detected in the CORD7 family, which is likely to be responsible for the condition.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Ophthalmology
Yafang Wang, Shu Liu, Yuanqi Zhai, Yang Liu, Xiaoling Wan, Wenqiu Wang, Fenghua Wang, Xiaodong Sun
Summary: A novel pathogenic variant associated with X-linked cone-rod dystrophy (XLCORD) was identified in a Chinese family in this study, expanding the spectrum of CORD-associated mutations in the RPGR gene and providing a basis for genetic diagnosis for X-linked CORD.
Article
Biochemistry & Molecular Biology
Sabrina Asteriti, Valerio Marino, Anna Avesani, Amedeo Biasi, Giuditta Dal Cortivo, Lorenzo Cangiano, Daniele Dell'Orco
Summary: This study explored the possibility of modulating the phototransduction cascade in mouse rods using direct or liposome-mediated administration of a recombinant protein. The results showed that the exogenous protein was fully incorporated into the mouse retina and induced a disease-like electrophysiological phenotype in the presence of a specific mutation. These findings are important for the treatment of autosomal dominant genetic diseases.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2023)
Article
Genetics & Heredity
Zhen Li, Wanyu Cheng, Feiyin Zi, Juan Wang, Xiaoyu Huang, Xunlun Sheng, Weining Rong
Summary: Pathogenic variants in CACNA1F, PROM1, ADAM9, and CRX genes were identified in six families affected by the diverse inheritance patterns of cone-rod dystrophy (CORD). The potential impact of the nonsense-mediated decay mechanism on the manifestation of CORD phenotypes was examined and addressed. Furthermore, the spectrum of pathogenic variants and clinical phenotypes associated with the CORD gene was extended.
FRONTIERS IN GENETICS
(2023)
Review
Genetics & Heredity
Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz, Said El Shamieh
Summary: This study evaluated the research output and productivity related to non-syndromic rod-cone dystrophy (RCD) genetics by analyzing publication frequency and citations, as well as the choice of journals and publishers, among countries classified by human development index (HDI). The study found a significant difference in research output between very high HDI countries and lower HDI countries. The use of next-generation sequencing (NGS) also varied among different HDI countries, with a lag of 3-8 years in high and medium HDI countries compared to very high HDI countries.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Ophthalmology
Jasleen K. Jolly, Anika Nanda, Thomas M. W. Buckley, Maximilian Pfau, Holly Bridge, Robert E. MacLaren
Summary: The feasibility of using S-MAIA to identify the pattern of loss in scotopic photoreceptor function in a rod-cone dystrophy population was explored. Results showed that a dark adaptation time of 20 minutes before testing is sufficient for thresholding. The S-MAIA is suitable for use in patients with a logarithm of the minimum angle of resolution vision of at least 0.7 and provides spatial information about disease progression.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
(2023)
Article
Ophthalmology
Krunoslav Stingl, Carel Hoyng, Melanie Kempf, Susanne Kohl, Ronja Jung, Giulia Righetti, Laura Kuehlewein, Lisa Pohl, Friederike Kortuem, Carina Kelbsch, Barbara Wilhelm, Tobias Peters, Katarina Stingl
Summary: Chromatic pupil campimetry (CPC) was used to map local functional degenerative changes of cones and rods in Stargardt disease (STGD1). The study found that rod function was not impaired in STGD1 patients in the peripheral visual field, while cone function was significantly reduced in the central visual field.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Ophthalmology
Maria L. Stunkel, Scott E. Brodie, Artur V. Cideciyan, Wanda L. Pfeifer, Elizabeth L. Kennedy, Edwin M. Stone, Samuel G. Jacobson, Arlene V. Drack
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2018)
Article
Ophthalmology
David H. Abramson, Xunda Ji, Jasmine H. Francis, Federica Catalanotti, Scott E. Brodie, Larissa Habib
BRITISH JOURNAL OF OPHTHALMOLOGY
(2019)
Article
Ophthalmology
Anthony G. Robson, Josefin Nilsson, Shiying Li, Subhadra Jalali, Anne B. Fulton, Alma Patrizia Tormene, Graham E. Holder, Scott E. Brodie
DOCUMENTA OPHTHALMOLOGICA
(2018)
Article
Genetics & Heredity
David H. Abramson, Federica Catalanotti, Scott E. Brodie, Michael G. Kellick, Jasmine H. Francis
OPHTHALMIC GENETICS
(2018)
Article
Oncology
Jasmine H. Francis, Nelli Roosipu, Ariana M. Levin, Scott E. Brodie, Ira J. Dunkel, Y. Pierre Gobin, David H. Abramson
Article
Multidisciplinary Sciences
Ariana M. Levin, Jasmine H. Francis, Molly McFadden, Scott Brodie, Y. Pierre Gobin, David H. Abramson
Editorial Material
Ophthalmology
Scott E. Brodie
DOCUMENTA OPHTHALMOLOGICA
(2019)
Article
Ophthalmology
Albert Liao, Terry Hsieh, Jasmine H. Francis, Jessica A. Lavery, Audrey Mauguen, Scott E. Brodie, David H. Abramson
Summary: The study compared retinal toxicity in retinoblastoma patients treated with two different concentrations of intravitreal melphalan and found no significant difference in electroretinogram-measured toxicity between injections at 25 µg and 30 µg. Patient survival was also favorable with no cases of extraocular extension or metastatic deaths observed in the patient population.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2021)
Article
Ophthalmology
Jennifer Nadelmann, Jasmine H. Francis, Scott E. Brodie, Engjel Muca, David H. Abramson
Summary: The study found that combined intravitreal injections of topotecan and melphalan were associated with a decrease in ERG amplitude, while there was no significant decrease observed in patients who received topotecan alone. Intravitreal topotecan injections at doses of 20 μg or 30 μg were not associated with retinal toxicity in patients with retinoblastoma.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Ophthalmology
Diane Wang, Archana Nair, Naomi Goldberg, Alan Friedman, Douglas Jabs, Scott E. Brodie
DOCUMENTA OPHTHALMOLOGICA
(2020)
Article
Multidisciplinary Sciences
Terry Hsieh, Albert Liao, Jasmine H. Francis, Jessica A. Lavery, Audrey Mauguen, Scott E. Brodie, David H. Abramson
Article
Oncology
Lucy V. Cobbs, Jasmine H. Francis, Ira J. Dunkel, Y. Pierre Gobin, Scott E. Brodie, David H. Abramson
Summary: This study aimed to identify best practices for treating 13q deletion syndrome patients with retinoblastoma using super-selective ophthalmic artery chemosurgery and intravitreal injection therapy. The majority of patients treated with these regimens had good ocular survival rates, but there were increased risks of systemic complications. Despite toxicities, the majority of patients had good outcomes with acceptable toxicity levels.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Ophthalmology
H. Richard McDonald, Tommaso Bacci, Danielle S. Rudich, Scott E. Brodie, K. Bailey Freund, Elliott H. Sohn
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2021)
Meeting Abstract
Ophthalmology
Scott E. Brodie, Jaffer Naqvi
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2020)
Meeting Abstract
Ophthalmology
Scott E. Brodie, Naomi Goldberg, Alan Friedman, Douglas A. Jabs, Diane Wang
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2019)
