{Reference Type}: Case Reports
{Title}: Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
{Author}: Dulz S;Atiskova Y;Engel P;Wildner J;Tsiakas K;Santer R;
{Journal}: Ophthalmic Genet
{Volume}: 42
{Issue}: 1
{Year}: 02 2021
{Factor}: 1.274
{DOI}: 10.1080/13816810.2020.1836658
{Abstract}: Introduction: LCHADD causes retinopathy associated with low vision, visual field defects, nyctalopia and myopia. We report a retrospective long-term single-center study of 6 LCHADD patients trying to clarify if early diagnosis has an impact on the course and outcome of chorioretinal degeneration. Methods: Long-term follow-up of visual acuity and staging of chorioretinal degeneration by fundus photography, optical coherence tomography (OCT) and autofluorescence (AF) in all six patients. Three patients (2 m/1 f; age 8-14.8 years) were diagnosed by newborn screening, a single patient early within the first year of life and treated promptly while the other two (1 m/1 f; age 23-24 years) were diagnosed later after developing symptoms. All carried HADHA variants; five were homozygous for the common p.E510Q variant, in one from the symptomatically diagnosed group p.[E510Q]; [R291*] was detected. Results: All patients showed retinal alterations, but early diagnosis was associated with a milder phenotype and a longer preservation of visual function. Among symptomatic patients, only one showed mild retinal involvement at the time of diagnosis. Conclusion: Despite the small number our study suggests that early diagnosis does not prevent retinopathy but might contribute to a milder phenotype with retained good visual acuity over time. OCT and AF are reliable non-invasive diagnostic tools to estimate the progression of early-stage retinal changes in LCHADD patients.