MedGen

Lisch epithelial corneal dystrophy (LECD) is characterized by corneal bands of whorled, feathery, gray opacities of varying widths. The opaque bands consist of clear, densely crowded, intraepithelial blisters. Vision may be impaired if the bands involve the central cornea (Lisch et al., 1992; Lisch et al., 2000). Reviews Lisch and Weiss (2019) provided a clinical and genetic update of the corneal dystrophies. They noted that LECD shows slow progression, and may result in blurred vision if the pupillary axis is involved. Indirect illumination focusing on the corneal epithelium reveals crowded clear microcysts, which are the clinical hallmark of LECD. [from OMIM]

Mucolipidosis IV (MLIV) is an ultra-rare lysosomal storage disorder characterized by severe psychomotor delay, progressive visual impairment, and achlorhydria. Individuals with MLIV typically present by the end of the first year of life with delayed developmental milestones (due to a developmental brain abnormality) and impaired vision (resulting from a combination of corneal clouding and retinal degeneration). By adolescence, all individuals with MLIV have severe visual impairment. A neurodegenerative component of MLIV has become more widely appreciated, with the majority of individuals demonstrating progressive spastic quadriparesis and loss of psychomotor skills starting in the second decade of life. About 5% of individuals have atypical MLIV, manifesting with less severe psychomotor impairment, but still exhibiting progressive retinal degeneration and achlorhydria. [from GeneReviews]