Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis.
View Article and Find Full Text PDFPurpose Of Review: Refractive surgery has stimulated considerable progress in corneal and anterior segment imaging, and optical characterization of the eye. From front surface corneal topography, we evolved to three-dimensional corneal tomography with limbus to limbus characterization of the front and back corneal surfaces and pachymetric mapping. Corneal anatomical evaluation has further evolved to layered or segmental tomography with the ability to characterize corneal epithelial thickness profile and the elevation of stromal front surface.
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