Results 41 to 50 of about 2,813 (161)

Prevalences of Known and Presumed Inherited Eye Diseases in Pugs in Germany

Veterinary Ophthalmology, Volume 29, Issue 5, September 2026.
ABSTRACT The aim of this retrospective study was to describe the prevalence and distribution of presumed inherited eye diseases in pugs in Germany and to evaluate potential risk factors for selected diseases. Therefore, ophthalmic findings from 294 pugs provided by the German panel of the European Eye Scheme programme were analyzed retrospectively ...
Carolin Lemle, Clara Koch, Andrea Meyer‐Lindenberg   +2 more
wiley   +1 more source

Lens subluxation grading system: predictive value for ectopia lentis surgical outcomes [PDF]

Einstein (São Paulo), 2009
Objective: To present a classification system to grade ectopia lentis and to assess its usefulness as a predictor for surgical outcomes. Methods: Fifty-one eyes of 28 patients with either simple (19 patients) or Marfan syndrome-associated ectopia lentis (
Mauro Waiswol, Niro Kasahara
doaj  

Alternative diagnoses with ectopia lentis [PDF]

Eye, 2011
Sir, We read with great interest the case presented by Moore et al,1 suggesting a correlation between Sturge–Weber syndrome and ectopia lentis. As the authors discuss, the ophthalmic features of Sturge–Weber syndrome do not classically include ectopia lentis, with only two previous reports of such an association.2, 3 The first of these reports is ...
A, Chandra, J A, Aragon Martin, A H, Child, G, Arno, D G, Charteris   +4 more
openaire   +2 more sources

Inhibition of SIRT7 Overcomes Radioresistance in Pancreatic Neuroendocrine Tumors by Reactivating MEN1 Expression

Advanced Science, Volume 13, Issue 39, 13 July 2026.
Pancreatic neuroendocrine tumors frequently silence MEN1 through epigenetic mechanisms. Here, SIRT7 recruits DNMT1 to the MEN1 promoter, drives hypermethylation, and enhances DNA repair. Inhibiting SIRT7 restores MEN1, reduces MRN complex abundance, impairs double‐strand break repair, and sensitizes PanNET models to radiation, supporting SIRT7 as a ...
Jianyun Jiang, Yan Wang, Yi Qin, Luohai Chen, Xiaowu Xu, Guixiong Fan, Desheng Jing, Miaoyan Wei, Xianjun Yu, Junfeng Xu, Shunrong Ji, Jie Chen   +11 more
wiley   +1 more source

Surgical management of bilateral isolated ectopia lentis – A case report

Indian Journal of Ophthalmology. Case Reports
A 28-year-old female presented with diplopia for 3 years. The patient was a high myope with best corrected visual acuity (BCVA) of 6/18, N6 in the right eye (RE) and 5/60, N36 in the left eye (LE).
Aaliya Ambereen, Nivean Madhivannan, Pratheeba D Nivean, Sangeetha Sekaran, Madhivannan Natarajan   +4 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Outcomes of Iris-Claw IOL Implantation in Patients with Marfan’s Syndrome in Jordan

Clinical Ophthalmology, 2022
Rami A Al-Dwairi,1 Wisam A Shihadeh,1 Asem A Alqudah,1 Noor M Alqudah,1 Mohammed Msallam,2 Firas Alrazem,1 Sarah Alshamarti,1 Zaki Shannak,1 Mohammad Abueid,1 Abdelwahab Aleshawi1 1Department of Special Surgery, Division of Ophthalmology, Faculty of ...
Al-Dwairi RA, Shihadeh WA, Alqudah AA, Alqudah NM, Msallam M, Alrazem F, Alshamarti S, Shannak Z, Abueid M, Aleshawi A   +9 more
doaj  

Bilateral Implantation of Scleral-Fixated Cionni Endocapsular Rings and Toric Intraocular Lenses in a Pediatric Patient with Marfan’s Syndrome

Case Reports in Ophthalmology, 2012
The management of ectopia lentis in Marfan’s syndrome is challenging. Multiple disease-associated factors conspire to deprive these patients of adequate vision.
Howard V. Gimbel, Gerardo D. Camoriano, Muhammad Aman-Ullah   +2 more
doaj   +1 more source

Delay in Diagnosis of Classical Homocystinuria

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake, Reena Sharma, Diane Green, John Bassett, Tarekegn Geberhiwot, Charlotte Dawson   +5 more
wiley   +1 more source

Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta‐synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications. While the role of homocystinuria in venous thromboembolism is well recognized, there is limited evidence of ...
Marisa Chard, Jasmin Simi Zhang, Lesley Turner   +2 more
wiley   +1 more source