Emerging object-oriented technology in health informatics

Patel, Sindhubala; Patel, Deep; Sun, Yi

doi:10.1177/146045829500100401

Cited by 1 publication

(1 citation statement)

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“…31 Similarly, improvement has been demonstrated with RPE by subretinal injection via vitrectomy operation of a targeted gene therapy such as voretigene neparvovec-rzyl (tradename Luxterna) for RPE65 mutations in Leber's congenital amaurosis. 32,33 Future efforts to treat retinal disease in LCHADD should focus on similar approaches.…”

Section: Discussionmentioning

confidence: 99%

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy

Gillingham,

Choi,

Gregor

et al. 2024

J of Inher Metab Disea

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Long chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for this disorder began in the United States around 2004. We compared visual outcomes among 40 participants with LCHADD or trifunctional protein deficiency diagnosed symptomatically to those who were diagnosed via NBS or a family history. Participants completed ophthalmologic testing including measures of visual acuity, electroretinograms (ERG), fundal imaging, contrast sensitivity, and visual fields. Records were reviewed to document medical and treatment history. Twelve participants presented symptomatically with hypoglycemia, failure to thrive, liver dysfunction, cardiac arrest, or rhabdomyolysis. Twenty eight were diagnosed by NBS or due to a family history of LCHADD. Participants diagnosed symptomatically were older but had similar percent males and genotypes as those diagnosed by NBS. Treatment consisted of fasting avoidance, dietary long‐chain fat restriction, MCT, C7, and/or carnitine supplementation. Visual acuity, rod‐ and cone‐driven amplitudes on ERG, contrast sensitivity scores, and visual fields were all significantly worse among participants diagnosed symptomatically compared to NBS. In mixed‐effects models, both age and presentation (symptomatic vs. NBS) were significant independent factors associated with visual outcomes. This suggests that visual outcomes were improved by NBS, but there was still lower visual function with advancing age in both groups. Early diagnosis and treatment by NBS is associated with improved visual outcomes and retinal function compared to participants who presented symptomatically. Despite the impact of early intervention, chorioretinopathy was greater with advancing age, highlighting the need for novel treatments.

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Section: Discussionmentioning

confidence: 99%