Results 1 to 10 of about 12,570 (135)

Cone dystrophy associated with autoimmune polyglandular syndrome type 1 [PDF]

Scientific Reports, 2023
To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous ...
Abdulrahman Badawi, Moustafa Magliyah, Omar Alabbasi, Lama AlAbdi, Fowzan S. Alkuraya, Patrik Schatz, Hani Basher ALBalawi, Marco Mura   +7 more
doaj   +2 more sources

Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To report a patient with cone dystrophy and a striking tapetal reflex caused by a novel variant in TTLL5, which was initially missed by a local retinal specialist due to inaccurate phenotyping of macular dystrophy.
Yi Zhai, Rita Kodida, Brian G. Ballios
doaj   +2 more sources

GNB1-Related Rod-Cone Dystrophy: A Case Report [PDF]

Case Reports in Ophthalmology
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs).
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran   +6 more
doaj   +2 more sources

Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene [PDF]

Frontiers in Cell and Developmental Biology, 2021
Purpose:ARL3 (ADP-ribosylation factor-like 3) variants cause autosomal dominant retinitis pigmentosa (RP) or autosomal recessive Joubert syndrome. We found a family with rod-cone dystrophy (RCD) and verified it was associated with compound heterozygous ...
Leming Fu, Ya Li, Shun Yao, Qingge Guo, Ya You, Xianjun Zhu, Bo Lei, Bo Lei   +7 more
doaj   +2 more sources

Rod-cone dystrophy with myriad systemic manifestations [PDF]

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   +2 more sources

Compound Heterozygous PCDH15 Variants Associated With Cone‐Rod Dystrophy in a Chinese Pedigree [PDF]

Molecular Genetics & Genomic Medicine
Background This study aimed to characterize the clinical and genetic features of a Chinese family with cone‐rod dystrophy in which compound heterozygous PCDH15 variants were identified.
Lei Zhang, Qianfeng Wang, Haiyan Wang, Wei Jia, Bowen Zhang, Ru Wang, Wei Qiang, Shuwei Bai   +7 more
doaj   +2 more sources

Bardet-Biedl Syndrome Presenting With Acute Kidney Injury Revealing Previously Undiagnosed Advanced Chronic Kidney Disease in a Young Adult: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Bardet–Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, rod‐cone dystrophy, polydactyly, developmental delay, renal dysfunction, and genitourinary abnormalities. We report the case of a 27‐year‐old female with previously undiagnosed BBS who presented with acute kidney injury precipitated by acute ...
Abbas A, Amjad N, Mufti AF, Waqas M, Iqbal M, Ali H, Habib A, Samadi Y, Haider MU.   +8 more
europepmc   +2 more sources

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Orphanet Journal of Rare Diseases, 2022
Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang   +15 more
doaj   +1 more source

Inherited Macular Dystrophies in a Tertiary Care Centre

Journal of Nepal Health Research Council, 2020
Background: Inherited macular dystrophies constitute a group of diseases characterized by bilateral central visual loss with symmetrical macular abnormalities usually presenting in the first two decades of life.
Priyanka Shrestha, Eli Pradhan, Pranil Man Singh Pradhan, Raba Thapa, Sanyam Bajimaya, Sanjita Sharma, Sushma Duwal, Govinda Paudyal   +7 more
doaj   +1 more source

Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina

eLife, 2021
The RLBP1 gene encodes the 36 kDa cellular retinaldehyde-binding protein, CRALBP, a soluble retinoid carrier, in the visual cycle of the eyes. Mutations in RLBP1 are associated with recessively inherited clinical phenotypes, including Bothnia dystrophy ...
Domino K Schlegel, Srinivasagan Ramkumar, Johannes von Lintig, Stephan CF Neuhauss   +3 more
doaj   +1 more source