Albinism is a genetic condition associated with abnormalities of the visual system. Defects in melanin production cause underdevelopment of the fovea, reduced retinal cell numbers and abnormal routing of ganglion cell nerve fibres at the optic chiasm. We examined 19 subjects with albinism and 26 control subjects to determine whether retinal abnormalities affect the structure of the visual corte...

Tyrosinase is a type I membrane glycoprotein whose activity is essential for melanin synthesis. Loss of function mutations in tyrosinase is the cause of oculocutaneous albinism 1. In the milder oculocutaneous albinism 1B form in which mutant proteins retain residual activity, the severity of albinism depends on the type of mutations expressed in the melanocyte. In this study, we show that coexp...

In albinism there is an abnormal projection of part of the temporal retina to the visual cortex contralateral to the eye. This projection, together with the normally routed fibers from nasal retina, provides a cortical hemisphere with visual input from more than the normal hemifield of visual space. In many mammalian models of albinism, a possible sensory mismatch in the visual cortex is avoide...

BACKGROUND The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7) a...

Dermatologist, East Kent Hospitals NHS Trust, Canterbury, Kent Oculocutaneous albinism is an hereditary disease that is found worldwide. However, it is in the tropical parts of the world where the clinical and life-altering impact is felt most predominantly by persons affected with albinism (PAA) due to sun exposure and skin cancer, social exclusion and persecution secondary to lack of understa...

Methods: Spectral-domain OCT imaging was performed on study subjects in 3 groups: subjects with ocular albinism (OA) or suspected OA with foveal hypoplasia, with nystagmus, and with or without iris transillumination; a subject with oculocutaneous albinism and Hermansky-Pudlak syndrome; and control subjects. Dense volumetric scans of each fovea were captured using standard and handheld spectral-...

PURPOSE In human albinism, part of the temporal retina projects abnormally to the contralateral hemisphere. This study was undertaken to test whether this abnormality can be identified with multifocal visual evoked potentials (mfVEPs) and whether it is evident in carriers of ocular albinism (OA1). METHODS In 12 control subjects, 11 patients with albinism, and 5 female carriers of OA1 monocula...

chédiak-higashi syndrome is a rare autosomal recessive congenital immunodeficiency mainly characterized by a condition called oculo-cutaneous albinism. the affected subjects have light-colored hair, vision problems, blood clotting (coagulation) abnormalities and in adulthood varying neurologic disorders. recurrent infections, particularly viral infection with other disorders in childhood are us...

Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He als...