Retinal phenotype in a case of lchad/tfp deficiency with late-stage diagnosis

Conclusion: We report the retinal phenotype of a patient with LCHAD/TFP deficiency diagnosed later in life. To date, this is the oldest patient reported with LCHAD/TFP–associated retinopathy. Macular retinoschisis may represent a feature of the end-stage retinopathy due to the progressive myopia. The diagnosis of LCHAD/TFP deficiency should be considered in adult patients with a history rhabdomyolysis, neuropathy, and retinopathy, as they would not have undergone routine newborn screening before the late 90s.
Source: Retinal Cases and Brief Reports - Category: Opthalmology Tags: Case Report Source Type: research