Results 1 to 10 of about 27,184 (165)

CDHR1 variants in a Japanese family with inherited retinal dystrophy and intrafamilial phenotypic variability [PDF]

Frontiers in Ophthalmology
IntroductionTo report a Japanese family with inherited retinal dystrophy (IRD) in which CDHR1 variants were identified, and to characterize the marked intrafamilial phenotypic variability.MethodsThis retrospective case series included three brothers ...
Toshiaki Hirakata, Dan Gao, Minami Oshima, Fumihiro Hara, Shintaro Nakao, Akira Murakami   +5 more
doaj   +2 more sources

Early-Onset Retinal Dystrophy in Alpha-Mannosidosis: A Case Report [PDF]

Case Reports in Ophthalmology
Introduction: Alpha-mannosidosis is a rare inherited lysosomal storage disorder characterized by immune deficiency, intellectual disability, hearing loss, and skeletal and facial dysmorphism.
Faeeqah Almhmoudi, Abdulaziz Bamusa, Abdulaziz Alrashid, Basil Khalid A. Alomari, Ghaida I. Alselami   +4 more
doaj   +2 more sources

Novel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes [PDF]

Case Reports in Ophthalmology
Introduction: The intraflagellar transport (IFT) complex plays a key role in protein transport and turnover within photoreceptors. IFT140 and IFT172 gene mutations have been associated with skeletal ciliopathies that occur concurrently with ...
Jennifer Adeghate, Samantha R. Goldburg, Sherry Bass, Joshua Schwimmer, Talia R. Kaden   +4 more
doaj   +2 more sources

Dystrophy or No Dystrophy: A Retinal Puzzle

Delhi Journal of Ophthalmology
Diseases affecting the peripheral retina are usually associated with diminished rod photoreceptor function and thus present with nyctalopia, i.e., night blindness.
Hitisha Mittal, Anurag Narula, Nishi Satish   +2 more
doaj   +2 more sources

Long-term follow-up of a case of choroidal neovascularization secondary to reticular pigmentary retinal dystrophy

Revista Brasileira de Oftalmologia, 2022
Reticular pigmentary retinal dystrophy, also known as Sjögren’s reticular dystrophy, is a rare condition characterized by macular lesions with a reticular pattern, which are best seen on fluorescein angiogram.
Carolina Campos Reis, Antônio Marcelo Barbante Casella, Lawrence Paul Chong, Jorge Carlos Pessoa Rocha   +3 more
doaj   +1 more source

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

Fundus flavimaculatus-like in myotonic dystrophy: a case report

BMC Ophthalmology, 2021
Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye.
Eric Kirkegaard-Biosca, Mònica Berges-Marti, Brahim Azarfane, Esther Cilveti, Laura Distefano, Jose García-Arumí   +5 more
doaj   +1 more source

Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report

Journal of Medical Case Reports, 2022
Background Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus.
Fatemeh Bazvand, Esmaeil Asadi Khameneh
doaj   +1 more source

Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene

Stem Cell Research, 2021
Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A.
Alberto Cañibano-Hernández, Lourdes Valdes-Sanchez, Ana B. Garcia-Delgado, Beatriz Ponte-Zúñiga, Francisco J. Diaz-Corrales, Berta de la Cerda   +5 more
doaj   +1 more source

CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis

American Journal of Ophthalmology Case Reports, 2022
Purpose: To describe the unusual case of inflammatory CRB1-associated retinal dystrophy that initially presented with self-resolving opsoclonus. Observations: We report the case of a now 2-year-old female who developed opsoclonus without myoclonus at the
Angela S. Li, Malini Veerappan Pasricha, Kapil Mishra, Quan D. Nguyen, Shannon J. Beres, Edward H. Wood   +5 more
doaj   +1 more source