- BY Dr. Rajeev's Clinic
It is a heterogenous group of disorders marked by complete absence melanin pigment in the skin, hair and eyes or in the eyes alone. When both skin and eyes are involved it is called oculo-cutaneous albinism (OCA) and when the lesion is limited to eyes only it is called ocular albinism (OA). There are ten types of oculo-cutaneous and four types of ocular albinism. In majority of the cases OCA is transmitted as autosomal recessive character except the one which is transmitted as X-linked recessive character. All these patients have normal numbers of melanocytes but they are unable to produce melanin because of defective melanosomes. Some types are tyrosinase positive while others are negative. Clinically, the whole skin including the hair are completely white, with eyes showing prominent red reflex especially in tyrosinase-negative types. Both types of patients show moderate to severe photophobia and nystagmus sometimes associated with head nodding. These features are more prominent in bright light. These changes are present at birth and remain so throughout life, though tyrosinase positive patients develop some pigment in the skin, hair and iris with increasing age. These patients may tan and develop dark brown freckles especially in the sun exposed areas. In X-linked ocular albinism only eye symptoms are present, skin and hair shows normal pigmentation. In another type of albinism called yellow mutant type, the hair turns yellow- red in color by the age of one year. There is an increased sensitivity to sun light and a tendency to develop actinic keratosis, squamous cell carcinoma and occasionally even melanomas which can prove to be fatal if not treated on time.
There is no treatment available. However, the patient's skin should be protected from sunlight by covering maximum body surface with clothes and applying local sunscreen. Patients should be advised to work mostly indoor. Regular checkup for premalignant and malignant lesions is useful. It can be managed well with few of the homoeopathic medicine so that condition doesn’t increase day by day.