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The following is a summary of “Alterations in ganglion cell and nerve fiber layer in Leber hereditary optic neuropathy across clinical stages,” published in the April 2025 issue of BMC Ophthalmology by Oeverhaus et al. 

Leber Hereditary Optic Neuropathy (LHON) caused progressive, painless, and permanent vision loss in both eyes, often with central scotomas, leading to visual decline and structural changes.  

Researchers conducted a retrospective study to examine the clinical characteristics of individuals at different LHON stages, emphasizing optical coherence tomography (OCT) imaging findings.  

They analyzed data from 22 individuals with LHON. Comprehensive ophthalmologic evaluations included SD-OCT, visual evoked potentials, and perimetry. Blood samples were collected for genetic testing when LHON was suspected, targeting 3 primary mitochondrial mutations (G1178A, T14484C, G3460A), with additional sequencing for other known mutations. Descriptive statistical methods were employed for data analysis.  

The results showed that 22 individuals with LHON (median age 33, range 9–68) carried a related mutation. The most common mutation was G11778A (55%), followed by G3460A (23%), T14484C (14%), and 1 case each of G13042A and C3461T. Acute vision loss occurred in 14 individuals (average duration: 5.2 ± 5 months), while 8 had chronic LHON. Visual acuity (VA, logMAR) was similar between acute and chronic cases (0.9 vs 0.9, P = 0.91). Retinal nerve fiber layer (RNFL) thickness was significantly lower in the temporal region for chronic cases (32 μm vs 56 μm, P < 0.0001) but not in the nasal region. Ganglion cell layer (GCL) thickness was also reduced in chronic cases in the temporal area (22 μm vs 28 μm, P = 0.04). Linear regression analysis indicated correlations between RNFL and GCL thickness and VA (R² = 0.18, P = 0.007 and R² = 0.1, P = 0.05).  

Investigators concluded that the observed unusual pattern of genetic mutations, with G3460A being more frequent than T14484C, possibly due to the small sample size, along with the finding that patients with chronic LHON had significantly thinner GCL and RNFL. 

Source: bmcophthalmol.biomedcentral.com/articles/10.1186/s12886-025-03991-3