[HTML][HTML] The retinal pigmentation pathway in human albinism: Not so black and white

R Bakker, EL Wagstaff, CC Kruijt, E Emri… - Progress in retinal and …, 2022 - Elsevier
Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have
decreased melanin in affected tissues and suffer from severe visual abnormalities, including …

Genetics of hair and skin color

JL Rees - Annual review of genetics, 2003 - annualreviews.org
▪ Abstract Differences in skin and hair color are principally genetically determined and are
due to variation in the amount, type, and packaging of melanin polymers produced by …

Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice

MG Anderson, RS Smith, NL Hawes, A Zabaleta… - Nature …, 2002 - nature.com
Pigmentary glaucoma is a significant cause of human blindness. Abnormally liberated iris
pigment and cell debris enter the ocular drainage structures, leading to increased …

Two newly identified genetic determinants of pigmentation in Europeans

P Sulem, DF Gudbjartsson, SN Stacey, A Helgason… - Nature …, 2008 - nature.com
We present results from a genome-wide association study for variants associated with
human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in …

Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism

WS Oetting, RA King - Human mutation, 1999 - Wiley Online Library
Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye
(oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from …

[HTML][HTML] Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

JM Newton, O Cohen-Barak, N Hagiwara… - The American Journal of …, 2001 - cell.com
Oculocutaneous albinism (OCA) affects∼ 1/20,000 people worldwide. All forms of OCA
exhibit generalized hypopigmentation. Reduced pigmentation during eye development …

Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice

B Chang, RS Smith, NL Hawes, MG Anderson… - Nature …, 1999 - nature.com
Glaucomas are a major cause of blindness 1. Visual loss typically involves retinal ganglion
cell death and optic nerve atrophy subsequent to a pathologic elevation of intraocular …

What's in a name? Nomenclature for colour aberrations in birds reviewed

H van Grouw - Bulletin of the British Ornithologists' Club, 2021 - BioOne
A review is presented of the seven commonest types of colour aberrations in birds together
with suggestions for a standardised universal nomenclature to identify and distinguish these …

Human pigmentation genetics: the difference is only skin deep

RA Sturm, NF Box, M Ramsay - Bioessays, 1998 - Wiley Online Library
There is no doubt that visual impressions of body form and color are important in the
interactions within and between human communities. Remarkably, it is the levels of just one …

[HTML][HTML] Relationship between foveal cone specialization and pit morphology in albinism

MA Wilk, JT McAllister, RF Cooper… - … & visual science, 2014 - iovs.arvojournals.org
Purpose.: Albinism is associated with disrupted foveal development, though intersubject
variability is becoming appreciated. We sought to quantify this variability, and examine the …