ArticleAmerican journal of ophthalmology case reports2020
Ocular evaluation and genetic test for an early Alström Syndrome diagnosis.
Article in American journal of ophthalmology case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Syndromic Retinitis Pigmentosa: A Narrative Review.Vision (Basel, Switzerland) · 2025Review
- Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.Yonago acta medica · 2024Review
- Smith-Kingsmore syndrome with nystagmus as the initial symptom.Acta epileptologica · 2023Article
- Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- A Rare Cause of Infantile-Onset Cardiomyopathy With Ocular Manifestations: Alström Syndrome.Cureus · 2022Article
- New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.BMC ophthalmology · 2022Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease. OBSERVATIONS: The first case is of a 2-year-old boy with history of spasmus nutans who presented with head bobbing and nystagmus. The second patient is a 5-year-old boy with history of infantile dilated cardiomyopathy status post heart transplant, Burkitt lymphoma status post chemotherapy, obesity, global developmental delay, and high hyperopia previously thought to have cortical visual impairment secondary to heart surgery/possible ischemic event. This patient presented with nystagmus, photophobia, and reduced vision. The third case involves a 8-year-old boy with history of obesity, bilateral optic nerve atrophy, hyperopic astigmatism, exotropia, and nystagmus. Upon presentation to the consulting pediatric ophthalmologist, none of the patients had yet been diagnosed with ALMS. All 3 cases were subsequently found to have an electroretinogram (ERG) that exhibited severe global depression and to carry CONCLUSIONS AND IMPORTANCE: ALMS is an autosomal recessive disease caused by
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