ReportOphthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome
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Cited by (24)
Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant
2024, Journal of AAPOSAlström syndrome caused by maternal uniparental disomy
2023, American Journal of Ophthalmology Case ReportsCitation Excerpt :However, most patients maintain a recordable ERG, showing a cone-rod dysfunction with a nearly electronegative waveform.9 OCT shows extensive outer retinal layer atrophy.9 Another ciliopathy, Bardet-Biedl syndrome, can present with cone-rod dystrophy, obesity, hypogonadism, and renal disease similar to Alström syndrome.10
Phenotypes and genotypes underlying paradoxical pupillary reaction in children
2022, Journal of AAPOSCitation Excerpt :CABP4-related cone-rod synaptic disorder is thus a novel genotype and phenotype associated with the phenomenon. However, it is possible that some previous patients clinically diagnosed as ACHM with PPR actually had CABP4-related cone-rod synaptic disorder.8 PAX2-related papillorenal syndrome is another novel association with PPR, identified in 1 girl in this study.
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa
2019, OphthalmologyCitation Excerpt :Patients with early disease onset have a higher detection rate than those with late onset, perhaps because the genetic background of patients with late onset is more complicated, or the disease is triggered by nongenetic factors. Retinitis pigmentosa is highly heterogeneous both clinically and genetically, and it can present alone or as part of a syndrome.15,36-38 Moreover, detailed ophthalmologic examinations are difficult, and subjective feedback can be minimal for young children, so precise diagnosis is often inaccessible, especially for rare and novel differential diagnoses.
Genetic Abnormalities of the Retina and Choroid
2019, Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa AbnormalitiesUnraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family
2024, Molecular Genetics and Genomic Medicine
Financial Disclosure(s): The authors have no proprietary or commercial interest in any materials discussed in this article. H.J.B.: Employee – Bioscientia, which is part of a publicly traded diagnostic company.
Author Contributions:
Conception and design: Khan, Bolz
Analysis and interpretation: Khan, Bifari, Bolz
Data collection: Khan, Bifari, Bolz
Overall responsibility: Khan, Bolz