title: Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision.
abstract: A 9-year-old Caucasian girl of northern European ancestry presented with findings suggestive of ocular albinism, although she maintains good visual acuity and lacks nystagmus and photophobia. DNA analysis revealed that the patient is a compound heterozygote for mutations in the tyrosinase gene, which is typically associated with overt, generalized oculocutaneous albinism and severe ocular symptoms. Her particular genotype confers no apparent cutaneous disease and only mild ocular features.
authors.affiliation: Wilmer Eye Institute, Johns Hopkins School of Medicine, 600 N.Wolfe Street, Baltimore, MD 21287, USA. anup.kubal@gmail.com
authors.forename: Anup
authors.initials: A
authors.lastname: Kubal
authors.forename: Gislin
authors.initials: G
authors.lastname: Dagnelie
authors.forename: Morton
authors.initials: M
authors.lastname: Goldberg
mesh_terms: D016117:Albinism, Ocular / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000002:abnormalities* / Q000473:pathology; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D014442:Monophenol Monooxygenase / Q000235:genetics; D009154:Mutation; D009759:Nystagmus, Pathologic / Q000175:diagnosis*; D020795:Photophobia / Q000175:diagnosis*; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis*; D014792:Visual Acuity / Q000502:physiology
chemical_list: D014442:Monophenol Monooxygenase