LCHAD chorioretinopathy case series long-time follow up

Aims/Purpose: The aim of this study is the present a long-time follow up of patients with LCHAD deficiency – ocular findings and it's evolution.

Methods: The study included a group of 8 patients diagnosed with LCHAD deficiency, confirmed by genotyping as a mutation in HADHA gene c.1528 G > C. Patients were evaluated yearly, since 2013 to 2024. Examination included slit-lamp examination, best corrected vision acuity, sOCT, fundus imaging and visual field – if possible to obtain. Patients were questioned about events of metabolic decompensation that required hospital treatment in the period of time since previous ophthalmological evaluation.

Results: Progressive deterioration of BCVA along with progressive myopia were observed. The loss of vision usually progressed rapidly and was unsymmetrical, thus usually unnoticed by the patient if the fellow eye maintained good vision acuity. The deterioration of the vision acuity was accompanied by presence of central scotoma, progression of myopia, chorioretinal thinning and in some cases forming of staphyloma. Pigment accumulation in the foveal area and in the central area was not associated with the vision deterioration or visual field loss. In 2 cases MNV occurred, followed by macular scarring in one patient. MNV if treated by anti-VEGF injections without a delay responded very well, 2-3 injections were needed to maintain the deasease inactive. Positive scotomas were associated with macular hemorhage. Bad metabolic status recognized by repeated necessity of in ward treatment due to metabolic decompensations was associated with progressive chorioretinopathy and it's complications.

Conclusions: Presence of the metabolic decompensations requires ophthalmological vigilance as it is a main factor for visual deterioration. The chorioretinal thinning is followed by staphyloma and progressive myopia. MNV can be successfully treated in those patients but evaluation should be done monthly afterwards.