Factors Affecting Quality of Life for People Living with Albinism in Botswana.

People with albinism (PWA) in Africa suffer many challenges, including higher risk of skin cancers and deeply embedded stigma. We conducted interviews with PWA to determine factors influencing their quality of life (QOL) in Botswana. Physical concerns expressed included skin/eye health issues and limited access to health care. Psychosocial concerns included stigma/discrimination and myths/superstitions. Environmental concerns included barriers to personal development of education and employment, safety concerns, financial insecurity, and disability rights issues. Pervasive difficulty in obtaining equal rights to physical, psychosocial, and environmental health affected QOL. Education around albinism and disability rights are needed to improve QOL for PWA.

Billy Idol.

Ruthie Weiss was born with white hair, but her parents did not consider the possibility of there being more to the story until they noticed that she was not visually tracking when she was just a month old. Thus began a long and continuing story of the discovery of Ruthie's albinism, her significant visual impairment, but also her courage and determination to do anything and everything her peers do, if not more. But this story is really about how her parents grew to embrace the impact Ruthie (and importantly Ruthie's disability) had on their lives and the lives of everyone with whom Ruthie interacted. The experience of raising Ruthie ultimately led her parents to think about a world where she might not exist, or at least might not exist with albinism. But it also led them to ponder a future in which children with genetic differences like albinism are gene edited using technologies like CRISPR-Cas9.

Children with albinism in African regions: their rights to 'being' and 'doing'.

BACKGROUND: Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and extremely sensitive to the damaging effect of the sun on their skin. Aside from the health implications of oculocutaneous albinism, there are also significant sociocultural risks. The impacts of albinism are particularly serious in areas that associate albinism with legend and folklore, leading to stigmatisation and discrimination. In regions of Africa those with albinism may be assaulted and sometimes killed for their body parts for use in witchcraft-related rites or to make 'lucky' charms. There is a dearth of research on the psychosocial aspects of albinism and particularly on how albinism impacts on the everyday lives of people with albinism. DISCUSSION: There is a growing recognition and acceptance in Africa that people with albinism should be considered disabled. Thomas's social-relational model of disability proposes it is essential to understand both the socio-structural barriers and restrictions that exclude disabled people (barriers to doing); and the social processes and practices which can negatively affect their psycho-emotional wellbeing (barriers to being). In this article, we combine a social model of disability with discussion on human rights to address the lacuna surrounding the psychosocial and daily experiences of people with albinism. CONCLUSION: Through using this combined framework we conclude that the rights of people with albinism in some regions of Africa are not being enacted. Our debate highlights the need to develop a holistic concept of rights for children and young people with albinism which sees human rights as indivisible. We illuminate some of the specific ways in which the lives of children with albinism could be improved by addressing 'barriers to being' and 'barriers to doing', at the heart of which requires a shift in attitude and action to address discrimination.

Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism.

PURPOSE: To evaluate the benefits of phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism (OCA). METHOD: The charts of 195 patients with OCA who visited a local eye clinic were reviewed. All of these patients had genetic linkage analysis to establish OCA type. Frequencies and Paired t-test analysis were determined. RESULTS: Of the 195 patients, nine (4.6%) underwent clear cornea phacoemulsification with intraocular lens implantation. Seven of the nine patients with OCA had the Hermansky-Pudlak (HPS) type 1; two had OCA type 1. Pre-operative BCVA of all eyes ranged from 1.0 to 2.3 logMAR with a mean of 1.42 logMAR and a standard deviation of 0.41 logMAR. Post-operative BCVA of all eyes ranged from 1.0 to 1.30 logMAR with a mean of 1.04 logMAR and a standard deviation of 0.10 logMAR. BCVA improved after phacoemulsification surgery and intraocular lens implantation (p = 0.002). Pre-operative astigmatism of all eyes ranged from +0.50 to +5.75 with a mean of +2.25 and a standard deviation of +2.40. Post-operative astigmatism of all eyes ranged from +0.50 to +2.00 with a mean of +1.23 and a standard deviation of +0.42. Astigmatism improved after phacoemulsification surgery and intraocular lens implantation (p = 0.05). CONCLUSION: Nine patients with OCA who underwent phacoemulsification and intraocular lens implant experienced improved visual acuity and reduced astigmatism post-operatively. These results suggest cataract surgery may improve vision and refractive errors, and thus quality of life, in patients with albinism.

Quality of life in patients with oculocutaneous albinism.

BACKGROUND: The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications. OBJECTIVE: As this subject has not been referenced in previous scientific articles in Brazil, this research intends to evaluate the quality of life of the albinos that treated at our medical institution. METHODS: The quality of life was evaluated through the WHOQOL-BREF. Furthermore, two aspects of main relevance in the lives of the albinos were also objects of research, low vision and skin cancer. The sample consisted of forty oculocutaneous albinos and a control group of forty healthy individuals, matched by sex and age. RESULTS: Among the participants, 57.7% were between 18 and 40 years old, 28.2% were between 41 and 60, and 14.1% were over 60. 42.1% had skin cancer before the study, 18.4% had skin cancer during the study and 89.5% stated visual deficit. The results obtained in the questionnaires showed a statistically significant difference in the physical domain, with P < 0.001. CONCLUSION: Low vision combined with skin lesions and social stigma may contribute to disturbances in the quality of life of oculocutaneous albinos. The results presented in this study demonstrated the vulnerability of the affected individuals and the special care required by those patients, at the same time that the need for further research is highlighted in order to better elucidate the aspects related to albinism.

Quality of life in patients with oculocutaneous albinism

AbstractBACKGROUND:The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications.OBJECTIVE:As this subject has not been referenced in previous scientific articles in Brazil, this research intends to evaluate the quality of life of the albinos that treated at our medical institution.METHODS:The quality of life was evaluated through the WHOQOL-BREF. Furthermore, two aspects of main relevance in the lives of the albinos were also objects of research, low vision and skin cancer. The sample consisted of forty oculocutaneous albinos and a control group of forty healthy individuals, matched by sex and age.RESULTS:Among the participants, 57.7% were between 18 and 40 years old, 28.2% were between 41 and 60, and 14.1% were over 60. 42.1% had skin cancer before the study, 18.4% had skin cancer during the study and 89.5% stated visual deficit. The results obtained in the questionnaires showed a statistically significant difference in the physical domain, with P < 0.001.CONCLUSION:Low vision combined with skin lesions and social stigma may contribute to disturbances in the quality of life of oculocutaneous albinos. The results presented in this study demonstrated the vulnerability of the affected individuals and the special care required by those patients, at the same time that the need for further research is highlighted in order to better elucidate the aspects related to albinism.

Mothers' experiences of genetic counselling in Johannesburg, South Africa.

Genetic counselling is offered in diverse settings, and patient reactions vary due to differences in personal, family and community beliefs, local healthcare settings, as well as cultural background. Together, these factors influence how individuals experience genetic counselling. This study aimed to describe and document the experiences of thirteen mothers, with children with Down syndrome, oculocutaneous albinism or haemophilia B, who had received genetic counselling at state hospitals in Johannesburg, South Africa. A qualitative research design drawing on principles of Interpretative Phenomenological Analysis was used. Four voice-recorded focus groups were conducted and the resulting data were analysed using thematic content analysis. Five themes were identified in the data: thrown into the unknown; a worthwhile experience; a break in communication; telling the family and the community; and spreading the word. It was seen that genetic counselling cannot be viewed as a singular experience, but rather as one which is influenced by mothers' lived experiences and their interactions with other healthcare services, family and community members. The results from this study showed that genetic services and conditions were poorly understood, that the experience of genetic counselling varied amongst mothers, and on-going patient support is needed particularly when addressing family and community members. Further research is needed to assess what information is valuable to individuals during genetic counselling and how to deliver this information in a contextually appropriate manner. Greater awareness of genetic conditions is also required amongst communities and healthcare professionals. Valuable insight was gained from this study which can be used to improve local training programmes and genetic counselling services in Johannesburg, and in South Africa.

Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism.

A 36-year-old African man from Guinea with a history of albinism presented with a many-year history of scaling and erythema of the face, neck, and arms. The patient had light eyes, hair, and skin. Physical examination showed extensive photodamage. A skin biopsy specimen from the posterior aspect of the lower leg showed a squamous-cell carcinoma in situ. The most common types of oculocutaneous albinism (OCA), OCA 1 and OCA 2, are autosomal recessive disorders of pigmentation that commonly affect the skin, hair, eyes, and ears. Photodamage and skin cancers plague patients with albinism. In Africa, where albinism is prevalent, albinos face a myriad of social and medical issues. Skin cancer surveillance is an important consideration for albinos, and sun protection is paramount.

Albinism for the busy clinician.

Albinism is a group of disorders characterized principally by its ophthalmic features with or without systemic manifestations. Persons with albinism manifest a wide variety of phenotypes and limited number of genotypes. Modern molecular genetics has encouraged a new classification and understanding of the subtypes of these disorders. In addition to the ocular and systemic manifestations, ophthalmologists must be familiar with the specific visual needs and psychological challenges of these individuals as well as those of their families.

Attitudes and beliefs of an albino population toward sun avoidance: advice and services provided by an outreach albino clinic in Tanzania.

OBJECTIVE: To determine an albino population's expectations from an outreach albino clinic, understanding of skin cancer risk, and attitudes toward sun protection behavior. DESIGN: Survey, June 1, 1997, to September 30, 1997. SETTING: Outreach albino clinics in Tanzania. PARTICIPANTS: All albinos 13 years and older and accompanying adults of younger children attending clinics. Unaccompanied children younger than 13 years and those too sick to answer questions were excluded. Ninety-four questionnaires were completed in 5 villages, with a 100% response rate. INTERVENTIONS: Interview-based questionnaire with scoring system for pictures depicting poorly sun-protected albinos. RESULTS: The most common reasons for attending the clinic were health education and skin examination. Thirteen respondents (14%) believed albinism was inherited; it was more common to believe in superstitious causes of albinism than inheritance. Seventy-three respondents (78%) believed skin cancer was preventable, and 60 (63%) believed skin cancer was related to the sun. Seventy-two subjects (77%) thought sunscreen provided protection from the sun; 9 (10%) also applied it at night. Reasons for not wearing sun-protective clothing included fashion, culture, and heat. The hats provided were thought to have too soft a brim, to shrink, and to be ridiculed. Suggestions for additional clinic services centered on education and employment. Albinos who had read the educational booklet had no better understanding of sun avoidance than those who had not (P =.49). CONCLUSIONS: There was a reasonable understanding of risks of skin cancer and sun-avoidance methods. Clinical advice was often not followed for cultural reasons. The hats provided were unsuitable, and there was some confusion about the use of sunscreen. A lack of understanding of the cause of albinism led to many superstitions.

A sociological study of children with albinism at a special school in the Limpopo province.

This article maintains that it is the social context, as much as, and sometimes more than the physical condition, that largely structures and limits the lives of people with albinism. It deals with albinism from a sociological, rather than a medical perspective. Viewed as such the problems experiencing by affected people stem primarily not from their physical differences but from the way others respond to those differences and from the social and physical environments they have to cope with. The article is based on a study of 32 children with albinism from a special school in the Limpopo province. Educational, health and social problems, attitude and perceptions about albinism were tested by way of structured interviews. The data reveal an acute lack of information about the causes and consequences of albinism. It projects it as a condition still deeply immersed in myths and superstition resulting in the stigmatizing and rejection of affected people. It also discloses a physical environment which is preventing rather than supporting people with albinism from reaching their potential. It calls for a reorientation in dealing with albinism--away from just medical intervention to treating it as a social construct requiring a holistic approach.

Albinism.

Albinism includes a group of genetic disorders with decreased pigmentation. Eye defects include foveal hypoplasia and misrouting of retinal nerve impulses. The primary concerns of those with albinism are low vision and societal misconceptions, which can also lead to social and emotional problems. Persons with albinism can live fairly normal lives when they have appropriate support and resources, including low vision rehabilitation.