Sex-based differences in visual acuity outcomes in a historical cohort of patients with Leber Hereditary Optic Neuropathy from case record survey-2 (CRS-2) (P5-11.018)

Subramanian, Prem, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Leroy, Bart P., Yu-Wai-Man, Patrick, van Everdingen, Judith, Krawczynski, Maciej, Lamperti, Costanza, Carelli, Valerio, Llòria, Xavier and Klopstock, Thomas 2025. Sex-based differences in visual acuity outcomes in a historical cohort of patients with Leber Hereditary Optic Neuropathy from case record survey-2 (CRS-2) (P5-11.018). Neurology 104 (7_Supp) 10.1212/wnl.0000000000211353

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Abstract

Objective: The Case Record Survey-2 (CRS-2; NCT02796274) was conducted to establish the natural history of LHON in idebenone-naïve patients. Here, we report 12-month clinical outcomes by sex and age at symptom onset. Background: LHON is a rare mitochondrial disorder resulting in severe bilateral vision loss. Estrogen levels and age at symptom onset are thought to influence disease progression. Design/Methods: Retrospective clinical data were extracted from case records of LHON patients. Eligibility criteria were LHON patients aged ≥12y, with m.11778G>A, m.3460G>A, or m.14484T>C mitochondrial DNA mutation, symptom onset after 1999, and ≥2 visual acuity (VA) assessments within 5 years of symptom onset. Patients were grouped by sex and age at symptom onset. Spontaneous clinically relevant benefit (sCRB), recovery (sCRR), stabilization (sCRS), and worsening (sCRW) at 12±3 months from baseline (first VA assessment after symptom onset) were calculated in subacute/dynamic eyes (≤1y since symptom onset). Results: Overall, eyes had similar rates of sCRB (male: 21.0% [17/81]; female: 20.0% [3/15]) and sCRW (male: 65.1% [41/63]; female: 69.2% [9/13]), regardless of sex. Male eyes had a lower rate of sCRR (male: 11.1% [9/81]; female: 20.0% [3/15]) and higher rate of sCRS (male: 32.4% [11/34]; female: 0.0% [0/8]). In females, there were no eyes <15y at symptom onset. Eyes 15–50y at onset had a higher rate of sCRR (15–50y: 33.3% [3/9] vs >50y: 0.0% [0/6]) and lower rate of sCRW (15–50y: 50.0% [4/8] vs >50y: 100.0% [5/5]) compared to eyes >50y. In males, eyes 15–50y at onset had the lowest rate of sCRR (<15y: 19.0% [4/21]; 15–50y: 6.0% [3/50]; >50y: 20.0% [2/10]) and the highest rate of sCRW (<15y: 47.4% [9/19]; 15–50y: 77.1% [27/35]; >50y: 55.6% [5/9]) compared to eyes <15y and >50y. Conclusions: The clinical course of LHON may differ based on sex and age at symptom onset.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Optometry and Vision Sciences
Publisher:	Lippincott, Williams & Wilkins
ISSN:	0028-3878
Last Modified:	22 Apr 2025 12:00
URI:	https://orca.cardiff.ac.uk/id/eprint/177826

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