A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4

Abstract

Citation: Oki R, Yamada K, Nakano S, et al. A Japanese family with autosomal dominant oculocutaneous albinism type 4. Invest Ophthalmol Vis

Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism

“…Using a 3D OCT-2000 (Topcon), Oki et al showed a ganglion cell complex thinning in the temporal region of the fovea, which was noticeably larger in patients with grade 2 than in those with grade 1 FH. Our findings are thus in good accordance with this previous report although the OCT device used and ethnic background of the patients did differ [8]. They found a slight reduction of sensitivity in the nasal visual field, which was not detectable in our cohort and was not a characteristic finding in 15 patients with albinism [15].…”

“…The distinct pattern of GCLT temporal to the fovea was also recently reported in a Japanese family with albinism [8]. Using a 3D OCT-2000 (Topcon), Oki et al showed a ganglion cell complex thinning in the temporal region of the fovea, which was noticeably larger in patients with grade 2 than in those with grade 1 FH.…”

“…In routine clinical practice, we noticed a temporal reduction in GCLT and shift of thickness towards the centre in an albino patient. Interestingly, a similar finding was recently reported in a Japanese family with albinism [8]. We therefore decided to retrospectively analyse GCLT distribution in patients referred to our Department of Ophthalmology in Muenster with FH with or without albinism.…”

Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India

“…Visual acuity is diminished to varying degrees in most people with OCA, and is caused by refractive errors, colour vision impairment, reduced stereoscopic vision, strabismus, nystagmus and macular (foveal) hypoplasia. Inheritance of OCA is mostly autosomal recessive and caused by pathogenic mutations in multiple genes that encode proteins involved in melanin biosynthesis . Type 1 OCA, associated with mutations in the tyrosinase gene ( TYR ), is the most common type of this disorder in India.…”

“…Inheritance of OCA is mostly autosomal recessive and caused by pathogenic mutations in multiple genes that encode proteins involved in melanin biosynthesis. 1 Type 1 OCA, associated with mutations in the tyrosinase gene (TYR), is the most common type of this disorder in India. The less common type 4 OCA (MIM 606574), estimated to comprise approximately 10% of all OCA cases in India, is caused by mutations in the solute carrier family 45 member 2 (SLC45A2) gene, also called the membraneassociated transporter protein (MATP) gene.…”