Elsevier

Ophthalmology

Volume 122, Issue 8, August 2015, Pages 1726-1727.e2
Ophthalmology

Report
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

https://doi.org/10.1016/j.ophtha.2015.03.001Get rights and content

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    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

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    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.

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    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.

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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

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