The clinical spectrum of albinism in humans

doi:10.1016/1357-4310(96)81798-9

Molecular Medicine Today

Volume 2, Issue 8, August 1996, Pages 330-335

Molecular Medicine T...

https://doi.org/10.1016/1357-4310(96)81798-9 Get rights and content

Abstract

Oculocutaneous albinism is characterized by a congenital reduction or absence of melanin pigment in the skin, hair and eyes. The reduction in the hair and skin results in a change in color but no change in the development of function of these tissues, while the absence of melanin pigment in the eye leads to abnormal development and function. Of particular interest are mutations that are associated with a slow accumulation of pigment in the hair and eyes over time, while retaining the ocular defects of albinism. Analysis of these mutations might provide the insight that we need to understand the interaction between the pigment system and the development of the optic system.

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People with albinism (PWA) often face discrimination due to people being superstitious and believing in myths. These problems occur especially frequently in Sub-Saharan Africa, where the prevalence of PWA is very high. PWA additionally suffers from a variety of health issues like extreme sensitivity to the sun or impaired vision. Affected people often do not know enough about their condition or are not able to get physical and mental support to enhance their situations and current mHealth solutions do not cover this area and topic yet. Therefore a low-fidelity prototype was developed in cooperation with six experts including two people affected by albinism. The prototype includes 38 requirements that were identified within a user-centered design approach. The main goal of this gamified application is to empower PWA by educating them about all aspects of their condition, associated myths, raising awareness about the importance of appropriate protection, and building their resilience, self-confidence, and coping skills.
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Citation Excerpt :
As an X-linked recessive disorder, only men exhibit full phenotypes; however, because of lyonization of 1 X chromosome, carrier females could also show signs such as mud-splattered fundi and hyperpigmentation of peripheral retina.28 Ophthalmic manifestation of albinism includes nonprogressive reduction of VA, nystagmus, strabismus, abnormal decussation of retinal ganglion cell axons at the optic chiasm (Fig. 2B), photophobia, iris translucency (Fig. 2C), foveal hypoplasia, fundus hypopigmentation (Fig. 2D), and abnormal head posture (AHP).56,110,128 Assessment on skin hypopigmentation and systemic review on bleeding susceptibility, history of recurrent infections, breathing difficulties, and colitis help to exclude syndromic form of albinism.
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The reduction of melanin synthesis leads to hypopigmentation of the skin and eyes. A wide range of ophthalmic manifestations arise from albinism, including reduction of visual acuity, nystagmus, strabismus, iris translucency, foveal hypoplasia, fundus hypopigmentation, and abnormal decussation of retinal ganglion cell axons at the optic chiasm. Currently, albinism is incurable, and treatment aims either surgically or pharmacologically to optimize vision and protect the skin; however, novel therapies that aim to directly address the molecular errors of albinism, such as l-dihydroxyphenylalanine and nitisinone, are being developed and have entered human trials though with limited success. Experimental gene-based strategies for editing the genetic errors in albinism have also met early success in animal models. The emergence of these new therapeutic modalities represents a new era in the management of albinism. We focus on the known genetic subtypes, clinical assessment, and existing and emerging therapeutic options for the nonsyndromic forms of albinism.
Daylight Photodynamic Therapy in the Treatment of Actinic Keratosis in Carriers of Oculocutaneous Albinism: Report of Three Cases
2019, Actas Dermo-Sifiliograficas
Changes in refractive errors in albinism: a longitudinal study over the first decade of life
2018, Journal of AAPOS
To analyze longitudinal changes in refraction in patients with albinism.
The medical records of 481 patients were reviewed retrospectively to identify patients who had cycloplegic refractions at three ages: visit A, 0-18 months old; visit B, 4-6 years old; visit C, 8-10 years old. We recorded refraction, type of albinism, glasses wear, and best-corrected visual acuity at visit C. Only right eyes were analyzed.
A total of 75 patients were included. Of these, 73 wore glasses. Mean best-corrected visual acuity at visit C was 20/72 (range, 20/25-20/200). Mean spherical equivalent was 2.81 ± 2.4 D at visit A, 2.53 ± 3.4 D at visit B, and 2.15 ± 4.0 D at visit C. These values did not differ significantly from visits A to C (P = 0.0578). Mean astigmatism for the three time points was 1.60 ± 1.00 D, 2.50 ± 1.14 D, and 2.87 ± 1.45 D; these values did differ significantly from A to C (P < 0.0001). Subgroup analysis for OCA1A (16 eyes), OCA1B (20 eyes), and OCA2 (30 eyes) showed an increase in astigmatism from A to C, with a significant difference in means (P < 0.0001, P < 0.0001, and P = 0.0001, resp.). Worse best-corrected visual acuity and higher mean astigmatism at visit C were found for OCA1A (20/104 and +4.08 ± 1.34) compared to OCA1B (20/59 and +2.30 ± 1.36; P < 0.0001) and OCA2 (20/66 and +2.53 ±1.21; P < 0.0001).
Children with albinism require periodic cycloplegic refraction, because astigmatism often increases within the first 10 years of life.
Clinical Features, Types of Albinism, and Natural History
2018, Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects
The main clinical features of albinism are associated with hypopigmentation, which results in pale skin, susceptible to skin cancer, and impaired vision. Intelligence is within the normal range. Fitness and fertility are probably slightly reduced, in Africa, possibly because of sociocultural rather than physiological reasons. Life expectancy may also be slightly reduced, particularly where health and education services are poor and difficult to access. The commonest type of albinism found in Africa is oculocutaneous albinism type 2 (OCA2) (including subtypes with (OCA2AE) and without pigmented freckles (OCA2A), and OCA2B (brown OCA), followed by the OCA3 (rufous); while OCA1 is very rare. These types have different clinical characteristics and can usually be distinguished accordingly, if necessary. The characteristics in a cohort of affected people, including persons with all these types (except type 1), are presented. The natural history is covered from birth to death, so that parents and health professionals can be prepared, when an infant with albinism is born.
Introduction and Historical Background
2018, Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects
In this chapter the topic of albinism in Africa is introduced, the motivation for writing a book on this condition is covered, terms used are defined, and the nature of the wide-ranging contents is described. Aspects discussed in the book include the historical background, clinical, epidemiological, molecular biology and genetics, dermatological, ophthalmologic, low-vision rehabilitation, psychosocial and cultural, genetic counseling, and genetic testing, as well as human rights, disability, marginalization, management, prevention, social support groups, and a personal perspective. The relevant historical research literature on albinism is reviewed, focusing on projects conducted in Africa. Published records of the condition start at least two millennia ago; experts suggest that Noah was the first person with albinism to be described. Thereafter, the condition has been observed and reported by travelers, explorers, doctors, and missionaries in people throughout the world. However, prevalence is generally higher in Africa than elsewhere and the health and cultural problems faced by affected people are more severe.

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ReviewThe clinical spectrum of albinism in humans

Abstract

Dermatol. Clin

J. Invest. Dermatol.

Genomics

Genomics

Blood

Albinism

The Coat Colors of Mice, A Model for Mammalian Gene Action and Interaction

Inborn errors of metabolism. Lecture II

Lancet

Principles of Human Genetics

Marriage of two complete albinos with normally pigmented offspring

Br. J. Ophthalmol.

Autosomal recessive oculocutaneous albinism in man: evidence for genetic heterogeneity

Am. J. Hum. Genet.

Tyrosinase gene mutations associated with type IA (‘yellow’) oculocutaneous albinism

Am. J. Hum. Genet.

Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene

Hum. Mutat.

Molecular genetics of oculocutaneous albinism

Hum. Mol. Genet.

The molecular basis of oculocutaneous albinism

J. Invest. Dermatol.

3.2 Å structure of the copper-containing, oxygen-carrying protein Panulirus interruptus haemocyanin

Nature

Substrate analog binding to the couple binuclear copper active site in tyrosinase

J. Am. Chem. Soc.

Analysis of mutations in the copper B binding region associated with type I (tyrosinase-related) oculocutaneous albinism

Pigment Cell Res.

Albinism in Nigeria

Br. J. Dermatol.

Review
The clinical spectrum of albinism in humans