MedGen

Punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) is characterized by the presence of tiny round multicolored opacities in the posterior stroma of the cornea, immediately anterior to the Descemet membrane. Affected individuals are typically asymptomatic and experience no visual disturbance (Alio del Barrio et al., 2020). [from OMIM]

Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy (Rebelo et al., 2021). [from OMIM]