Document Type : Original Article



Background: Oculocutaneous albinism is a disease with an autosomal recessive inheritance pattern in most cases. People with Oculocutaneous albinism face many health, psychological and financial issues. In this study, we report a unique village of Bhatti tribe in Jacobabad District, Pakistan, in which 40 children and adults with albinism live. The aim of this study was to observe the pattern of inheritance, complications and socioeconomic impacts of this condition on the community.
Methods: Detailed clinical history and relevant data were recorded on a specially designed performa followed by clinical examination by a consultant dermatologist together with his team to observe the extent of the disease and associated complications in two seasons (winter and summer).
Result: This village, with a total population of 810, had 40 cases, 17 male and 23 female, ranging in age from 6 months to 35 years. About 65% of the affected individuals were younger than 16 years of age. There were 22 involved families in this village and 2 of them had 3 or 4 affected members. In this area, which is geographically close to the equator, all 40 cases (100%) had photodermatosis and 36/40 cases (90%) had bacterial skin infections during summer. In addition, they had limited outdoor exposure during this season. These complications also caused occupational, social and educational limitations 9 months a year. Eye problems were present in all 40 cases; however, all 40 cases were malignancy free.
Conclusion: Oculocutaneous albinism is challenging not only because of its management but also because of its social and financial impacts. The current trend of consanguineous marriages, prevalent in this village, puts further emphasis on the role and the importance of marriage counseling in such situations.