CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness.

Autor: Dumitrescu AV; Department of Ophthalmology, University of Iowa, Iowa City, Iowa. Electronic address: alina-dumitrescu@uiowa.edu., Pfeifer WL; Department of Ophthalmology, University of Iowa, Iowa City, Iowa., Arhens M; Department of Biostatistics, University of Iowa, Iowa City, Iowa., Andorf JL; Institute for Vision Research, University of Iowa, Iowa City, Iowa., Drack AV; Department of Ophthalmology, University of Iowa, Iowa City, Iowa; Department of Biostatistics, University of Iowa, Iowa City, Iowa.
Jazyk: angličtina
Zdroj: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie [Can J Ophthalmol] 2023 Dec 27. Date of Electronic Publication: 2023 Dec 27.
DOI: 10.1016/j.jcjo.2023.11.022
Abstrakt: Objective: To describe pediatric patients with CACNA1F-associated incomplete X-linked congenital stationary night blindness presenting without nyctalopia, and review the causes leading to diagnosis delay.
Design: Retrospective cohort.
Methods: This was set in a single institution between 2004 and 2019. There were12 patients. The intervention or observation procedures used were clinical course, visual acuity, refractive error, images, electrophysiology, genetic testing, pedigree. The main outcome measures were cohort description and causes of diagnosis delay.
Results: For these 12 cases, the referring diagnosis was congenital nystagmus (7), reduced best-corrected visual acuity (BCVA, 4), and progressive myopia (1). Nyctalopia was not a presenting symptom and developed in 4 patients during follow-up. Seven patients presented with nystagmus. All patients developed early-onset myopia. Myopia progressed more rapidly before age 6 than after (average 1.14 D vs 0.25 D) (p = 0.0033). The average final BCVA was 20/50 (20/30-20/150). Vision at presentation was correlated with final visual acuity (r 2  = 0.87, p = 5.4E-06). The first cycloplegic refraction was correlated to the final refractive error (r 2  = 0.49, p = 0.009). Patients with nystagmus had worse BCVA on average. Full-field electroretinogram was abnormal and diagnostic in all cases, as confirmed by genetic testing. The average time to diagnosis was 4.2 years, and the average age at diagnosis was 7.9 years. The delay in diagnosis was due to the absence of nyctalopia, not performing an electroretinogram and/or an alternative diagnosis.
Conclusions: In children, CACNA1F-associated synaptic dysfunction does not usually present with night blindness. It should be suspected in male patients with early-onset myopia, especially with a history of nystagmus.
Competing Interests: Footnotes and Disclosure Funding/Support: Dr. Drack is supported by Ronald Keech Professorship. Dr. Dumitrescu is supported by Chakraborty Family Professor in Pediatric Genetic Retinal Diseases. Financial Disclosures: Alina Dumitrescu: Consultant for PureTech Health Inc. (Boston, MA ReVision Therapeutics Inc. (Ridgewood, NJ). Advisory board Janssen Pharmaceutica (Titusville, NJ). Arlene Drack: Research Grants Chakraborty Family Foundation, Fighting Blindness Canada, InVision2020, Spark Therapeutics, Regeneron. Advisory Board NOAH and ProQr. Wanda L Pfeifer: Employee of iScreen Vision Inc. Memphis TN. Monica Arhens—No financial disclosures. Jeaneen L Andorf—No financial disclosures.
(Copyright © 2023 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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