Publications by authors named "Catie Schlechter"
Background: Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with Alström syndrome associated with two novel changes in ALMS1.
Case Presentation: Two siblings originally diagnosed as having achromatopsia presented with mild light sensitivity, nonspecific otitis media, and mild developmental delay during the first decade of life with a relatively stable ocular appearance during second decade, late onset of nystagmus and dyschromatopsia (after 20 years) and preserved vision during the third decade of life.
Purpose: To assess long-term effects of genotype on chorioretinopathy severity in patients with mitochondrial trifunctional protein (MTP) disorders.
Design: Retrospective case series.
Participants: Consecutive patients with MTP disorders evaluated at a single center from 1994 through 2015, including 18 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and 3 patients with trifunctional protein deficiency (TFPD).
Purpose: Autosomal dominant Stargardt-like macular dystrophy is a rare juvenile macular dystrophy most commonly because of mutations in ELOVL4 and PROM1 genes. In this study, we review a series of cases of Stargardt-like macular dystrophy and use advanced imaging techniques to describe pathophysiologic manifestations.
Methods: A retrospective medical record review was performed for five patients from two families with ELOVL4 mutation and one patient with PROM1 mutation including reviewing diagnostic imaging, such as fundus photography, spectral domain optical coherence tomography, fundus autofluorescence, and adaptive optics flood-illuminated photography.
Article Synopsis
- Centrioles play a crucial role in the formation of cilia, but mutations in their biogenesis have been linked to conditions like primary microcephaly and Seckel syndrome that don’t show typical ciliopathy symptoms.
- The study found mutations in the PLK4 kinase and TUBGCP6 genes in individuals with microcephalic primordial dwarfism, suggesting a broader range of health issues related to centriole dysfunction.
- Different levels of PLK4 impairment were shown to lead to various growth and cilia-related problems, explaining how certain disorders can feature microcephaly without the classic ciliopathy signs.