Forsius-Eriksson syndrome

Forsius-Eriksson syndrome: X-linked tapetoretinal degeneration, formerly thought to be a form of ocular albinism, caused by a mutation in the CACNA1F gene (locus: Xp11.23), which encodes a voltage-gated calcium channel subunit. Symptomatic males exhibit foveal hypoplasia, axial myopia, and protanomaly; female carriers have slightly defective color discrimination and latent nystagmus, but no mosaic pigment pattern in the fundus. Called also Ð•land eye disease.

Игры ⚽ Нужен реферат?

Forsius-Eriksson syndrome — For·si·us Eriks·son syndrome (forґse əs erґik sən) [Henrik Forsius, Finnish physician, born 1921; Aldur W. Eriksson, Finnish geneticist, 20th century] see under syndrome … Medical dictionary
Ð•land eye disease — Forsius Eriksson syndrome … Medical dictionary
Ocular albinism — Classification and external resources ICD 10 E70.3 ICD 9 270.2 … Wikipedia
Ð•land eye disease — (ahґlahnt) [Ð•land Islands, Finnish islands in the Baltic Sea, where it was first observed in the 1960 s] Forsius Eriksson syndrome … Medical dictionary
ocular albinism — (OA) X linked albinism that affects primarily the eyes, with pigment of the hair and skin being normal or only slightly diluted. It is characterized by reduced visual acuity, retinal hypopigmentation, the presence of macromelanosomes in the eyes … Medical dictionary
Albinism — Partial or total lack of the pigment melanin in the skin, hair and iris. The word albino is Portuguese and comes from the Latin albus for white. * * * A group of inherited (usually autosomal recessive) disorders with deficiency or absence of… … Medical dictionary

Academic Dictionaries and Encyclopedias