Presenile Cataract: Consider Cholestanol

Tészás, Alexandra; Pfund, Zoltán; Morava, Éva; Kosztolányi, György; Sistermans, Erik A.; Wevers, Ron A.; Kellermayer, Richárd

doi:10.1001/archopht.124.10.1490

Cited by 4 publications

(1 citation statement)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Juvenile and presenile cataracts can range from mild and benign to advance and sight-threatening and usually have a distinct structure. Presenile cataracts may have a hereditary cause, or can result from trauma or chromosomal, endocrine, metabolic, or systemic disorders ( 3 ). Yet, a sizeable percentage of presenile cataracts is of unknown cause.…”

Section: Introductionmentioning

confidence: 99%

Structural Characteristics of the Lens in Presenile Cataract

et al. 2021

View full text Add to dashboard Cite

The purpose of this work is to examine the structure of the anterior lens epithelial cells (aLECs) of presenile idiopathic cortical cataract to investigate the possible structural reasons for its development. The anterior lens capsules (aLCs: basement membrane and associated lens epithelial cells) were obtained from routine uneventful cataract surgery of 5 presenile cataract patients (16 and 41 years old women and 29, 39, and 45 years old men). None of the patients had family history of cataract, medication, or trauma and they were otherwise healthy. In addition, the patients did not have any other abnormal features in the ocular status except cataract. The aLCs were prepared for scanning electron microscopy (SEM) and transmission electron microscopy (TEM). The most prominent abnormal features observed by SEM for all 5 studied presenile cataract patients were the changes of the aLECs structure with the dents, the selective concavity of some LECs, at their apical side centrally toward the nucleus. In addition, TEM showed the thinning of the lens epithelium with the segmentally concave cells and the compressed and elongated nuclei. Abnormal and distinguishable structural features were observed in the anterior lens epithelium aLECs in all 5 patients with presenile cataract. Disturbed structure of aLECs, regularly present in presenile cataract type is shown that might be associated with water accumulation in the presenile idiopathic cortical cataract lens.

show abstract

Section: Introductionmentioning

confidence: 99%

Structural Characteristics of the Lens in Presenile Cataract

et al. 2021

View full text Add to dashboard Cite

show abstract

Leukoencephalopathies associated with inborn errors of metabolism in adults

Sedel

Tourbah

Fontaine

et al. 2008

J of Inher Metab Disea

View full text Add to dashboard Cite

The discovery of a leukoencephalopathy is a frequent situation in neurological practice and the diagnostic approach is often difficult given the numerous possible aetiologies, which include multiple acquired causes and genetic diseases including inborn errors of metabolism (IEMs). It is now clear that IEMs can have their clinical onset from early infancy until late adulthood. These diseases are particularly important to recognize because specific treatments often exist. In this review, illustrated by personal observations, we give an overview of late-onset leukoencephalopathies caused by IEMs.

show abstract