Supplementary Medical Images for a Leber Hereditary Optic Neuropathy Case Report

279,588 bytes of supplementary material, likely PNG images, accompany a case report on Leber Hereditary Optic Neuropathy (LHON). The report details an 18-year-old patient with a rare heteroplasmic MT-ND5 variant at a 23.8% mutant load in blood, who experienced progressive visual recovery over four years. This dataset supports the clinical conclusion that complete mitochondrial genome sequencing is warranted when standard LHON testing is negative, even with low blood heteroplasmy.

Use Cases

• Clinical education based on documented retinal and optic disc findings
• Research into genotype-phenotype correlations for rare mitochondrial DNA variants
• Validation of diagnostic protocols for heteroplasmic LHON cases
• Illustration of long-term visual recovery trajectories in LHON

Strengths

• Includes specific clinical and genetic details: a 23.8% heteroplasmic load for the m.13042G>A variant
• Provides a four-year longitudinal follow-up on visual acuity outcomes
• Released under a permissive CC-BY-4.0 license for reuse

Limitations

• Column names and row counts are not provided, limiting precise understanding of data structure
• The dataset appears to consist solely of supplementary images, lacking structured tabular clinical data
• The 'last updated' date of 2026-03 21 is in the future, indicating a metadata error

Provenance

Source

Case report authored by 'figshare admin karger', associated with the publisher Karger.

Collection Method

Clinical case documentation and genetic analysis via massive parallel sequencing of leukocyte DNA.

Time Range

Covers a four-year patient follow-up period.

Freshness

Last updated metadata shows 2026-03-21, which is inconsistent.

Geography

Patient is described as Caucasian; specific location not stated.