title: Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome.
abstract: Ichthyosis follicularis, atrichia, and photophobia (IFAP) are typical features of a rare neuroichthyosis termed IFAP syndrome. We demonstrate the ultrastructural findings of the eyes from a 33-year-old patient with IFAP syndrome. Clinically, eyebrows and eyelashes were absent from birth, and photophobia was noted at the age of 1 year. The globes measured 28 and 29 mm, respectively, and both eyes showed a posterior staphyloma. Histopathologically, bilateral centrally located subepithelial avascular corneal scarring with secondary corneal amyloid deposition was found. In addition to already described ocular abnormalities in IFAP syndrome we demonstrate ultrastructural anomalies of desmosomes and tonofilaments in corneal epithelium; defects of basement membrane, Bowman layer, and anchoring fibrils; secondary corneal amyloid deposition; and keratocyte degeneration. A defective tear film, recurrent atopic keratoconjunctival inflammations, or a primary anomaly of corneal epithelial adhesion are potential causes for the corneal defects. Photophobia is most likely due to corneal abnormalities.
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D003315:Cornea / Q000648:ultrastructure; D005124:Eye Abnormalities / Q000473:pathology*; D005138:Eyebrows / Q000002:abnormalities*; D005140:Eyelashes / Q000002:abnormalities*; D006201:Hair Diseases / Q000473:pathology*; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000473:pathology*; D008027:Light / Q000009:adverse effects*; D008297:Male; D013577:Syndrome; D014786:Vision Disorders / Q000209:etiology / Q000473:pathology*