Ciliopathy: Sjögren-Larsson Syndrome

Glistening yellow-white crystalline inclusions in foveal and parafoveal areas are almost pathognomonic (Fig. 36.1). These inclusions are evident at 1-2 years old and increase with age. Patients may have corneal stromal opacities, punctate keratitis, myopia, and astigmatism. About 50% have pigmentary degeneration of the retina, with decreased visual acuity and marked photophobia. Patients have dry, scaly skin (ichthyosis). Affected infants tend to be born prematurely. They also have neurological problems due to leukoencephalopathy (affecting the white matter of the brain). Intellectual disability varies from mild to severe, along with dysarthria and delayed speech.