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Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.
J Med Case Rep
December 2024
Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital, Northwest University, Xi'an, 710004, Shaanxi, China.
Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.
View Article and Find Full Text PDFEpiretinal Membrane and Senile Cataract: Combined vs Sequential Surgery.
Retina
December 2024
Ophthalmology Complex Operative Unit, University Campus Bio-Medico, Rome, Italy.
Purpose: To evaluate the outcomes of combined phacovitrectomy versus sequential phacoemulsification and vitrectomy in patients with both senile cataract and epiretinal membrane (ERM).
Methods: A retrospective multicenter study was conducted between 2014 and 2022 at two hospitals in Italy. Patients with idiopathic ERM and senile cataract in the same eye were enrolled and underwent either combined (n=38) or sequential surgery (n=38), performed by a single surgeon.
Retinal Thickness Change Following Cataract Surgery in Eyes with Epiretinal Membranes.
J Clin Med
November 2024
Department of Ophthalmology, Academic Teaching Hospital of Saint John of God, Johannes von Gott Platz 1, 1020 Vienna, Austria.
To investigate intraretinal changes and central millimeter thickness (CMMT) after successful uncomplicated cataract surgery in patients with asymptomatic epiretinal membrane (ERM). prospective, single-center, interventional case series. Thirty eyes from 26 patients with cataract and ERM (ERM group) and fifteen consecutive eyes with senile cataract with a healthy macula (control group) were included.
View Article and Find Full Text PDFCausal linkage of Graves' disease with aging: Mendelian randomization analysis of telomere length and age-related phenotypes.
BMC Geriatr
October 2024
Department of Laboratory Medicine, Shengjing Hospital of China Medical University, Shenyang, 110004, China.
Background: Aging is an irreversible progressive decline in physical function. Graves' disease (GD) is a common cause of hyperthyroidism and is characterized by elevated levels of the thyroid hormone (TH). High TH levels are associated with aging and a shortened lifespan.
View Article and Find Full Text PDFMacular changes after cataract surgery.
Rom J Ophthalmol
October 2024
A.I.S.C.B.I. Cluj, Cluj-Napoca, Romania.
Purpose: This article aims to highlight if the central macular retina suffers changes after cataract surgery, and to evaluate the eventually discovered changes regarding persistence.
Material And Method: This retrospective study, which lasted over three years (2021-2023), included patients who underwent cataract surgery performed by one surgeon. Spectral-domain optical coherence tomography (SD-OCT) imaging assessed macular changes and measured the central macular thickness.
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