Results 61 to 70 of about 429,850 (164)

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy [PDF]

, 2010
PURPOSE: To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene.
White, Edward, Munier, Francis L, Robson, Anthony G., Munier, F.L., Hunt, DM, Borruat, Francois-Xavier, Holder, Graham E., Carmona, Ruben, Moore, Anthony T., Bedell, M., McClements, M., Barthelmes, D, Tiab, L., Escher, Pascal, Tiab, L, McClements, M, Gaillard, M.C., Bradshaw, K., Moore, A T, Webster, A.R., Moore, A.T., Escher, P., Hunt, D.M., Hunt, D M, Webster, A R, Schorderet, D F, Moore, Anthony T, Carmona, R, Gaillard, Marie-Claire, Moore, AT, Schorderet, Daniel F., Munier, Francis L., Borruat, F.X., Holder, G E, Webster, AR, Schorderet, Daniel F, Borruat, F X, Bradshaw, K, Robson, AG, Zhang, K., Michaelides, Michel, Barthelmes, D., White, E., Gaillard, MC, Bedell, M, Bradshaw, Keith, Bedell, Matthew, McClements, Michelle, Michaelides, M., Schorderet, D.F., Webster, Andrew R, Escher, P, Borruat, FX, White, E, Robson, A.G., Carmona, R., Zhang, Kang, Hunt, David M, Holder, GE, Holder, Graham E, Munier, FL, Tiab, Leila, Robson, A G, Michaelides, M, Webster, Andrew R., Hunt, David M., Munier, F L, Robson, Anthony G, Schorderet, DF, Holder, G.E., Zhang, K, Barthelmes, Daniel, Gaillard, M C   +72 more
core   +1 more source

ISOLATED MACULOPATHY AND MODERATE ROD–CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM

, 2021
Purpose: To describe an isolated maculopathy and an intermediate rod-cone dystrophy phenotype as the milder end of the RDH12-related retinal dystrophy spectrum.
Elfride De Baere, De Baere, Elfride, De Bruyne, Marieke, Mattias Van Heetvelde, Frauke Coppieters, Van Heetvelde, Mattias, Van Cauwenbergh, Caroline, Caroline Van Cauwenbergh, Marieke De Bruyne, Coppieters, Frauke, De Zaeytijd, Julie, Bart P. Leroy, Leroy, Bart, Julie De Zaeytijd   +13 more
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

BMC Medical Genetics, 2017
Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic ...
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
doaj   +1 more source

Retbindin Dynamically Redistributes to Preserve Retinal Flavin‐Dependent Homeostasis in Response to Riboflavin Availability and Circadian Demand

The FASEB Journal, Volume 40, Issue 18, 30 September 2026.
The retina is a part of the central nervous system, has remarkably high energy demands that require efficient retinal metabolism. Dysregulation of retinal metabolism disrupts energy supply and redox balance, leading to the pathogenesis of diverse retinal diseases. Riboflavin and its cofactors, flavin mononucleotide (FMN) and flavin adenine dinucleotide
Xue Zhao, Mustafa S. Makia, Gennadiy P. Moiseyev, Muna I. Naash, Muayyad R. Al‐Ubaidi   +4 more
wiley   +1 more source

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.
Tyler Etheridge, Elizabeth R. Kellom, Rachel Sullivan, James N. Ver Hoeve, Melanie A. Schmitt   +4 more
doaj   +1 more source

Cone Rod Dystrophy - Two Associated Mutations, Two Different Phenotypes

, 2020
Cone rod dystrophy is a rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance.
Jean-Philippe Woillez
core  

International Guideline on the Diagnosis, Treatment, and Monitoring of Long‐Chain Fatty Acid Oxidation Disorders (LC‐FAOD)

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Long‐chain fatty acid oxidation disorders (LC‐FAOD) are rare inherited defects of mitochondrial β‐oxidation that impair energy generation during fasting or metabolic stress. Clinical manifestations range from neonatal hypoketotic hypoglycemia and cardiomyopathy to hepatopathy, recurrent rhabdomyolysis, and chronic myopathy.
Sarah C. Grünert, Kaustuv Bhattacharya, Daniela Karall, Mirjam Langeveld, Fran Rohr, Gepke Visser, Jerry Vockley, Aileen Kenneson, Rani H. Singh, Ute Spiekerkoetter, International LC‐FAOD Guideline Workgroup, Georgianne L. Arnold, Kiera Batten, Terry G. J. Derks, Patrick Forny, Melanie B. Gillingham, Emma Glamuzina, Anita Inwood, Monika Jörg‐Streller, Erle Kristensen, Svetlana Lajic, Alexander Laemmle, Risto Lapatto, Elena Martín‐Hernández, Diego Martinelli, Mel McSweeney, Sonia Moreira, Margot F. Mulder, Anna Nordenström, Bryony Ryder, Marit Schwantje, Ida Vanessa D. Schwartz, Arthavan Selvanathan, Serap Sivri, Maren Thiel, Pilar Quijada‐Fraile, Johan L. K. Van Hove, Yilmaz Yildiz   +37 more
wiley   +1 more source

Rod-cone dystrophy with myriad systemic manifestations

Oman Journal of Ophthalmology
Rod-cone dystrophy (RCD) is an inherited retinal disorder primarily affecting rod photoreceptors, followed by cone degeneration. We present the case of a 26-year-old male with RCD and multiple systemic abnormalities (atrial septal defect, hypogonadism ...
Goudappa Patil, Premika Pandarasamy, N. V. S. Krishna Reddy, Pratyusha Ganne   +3 more
doaj   +1 more source

Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration [PDF]

, 1997
Crx is a novel paired-like homeodomain protein that is expressed predominantly in retinal photoreceptors and pinealocytes. Its gene has been mapped to chromosome 19q13.3, the site of a disease locus for autosomal dominant cone-rod dystrophy (CORDII ...
Brady, Kevin D, Coats, Caraline L, Zack, Donald J, Jacobson, Samuel G, Swain, Prabodha K, Affatigato, Louisa M, Chen, Shiming, Sieving, Paul A, Fishman, Gerald A, Wang, Qing-Liang, Stone, Edwin, Swaroop, Anand   +11 more
core   +1 more source