Congenital Absence of Pigmentation in Skin and Hair with Diminished Vision
Oculocutaneous albinism is the most common inherited disorder of generalized hypopigmentation due to genetic defects in melanin biosynthesis. Depending upon the genetic mutations and clinical severity, it has been divided into five forms: type 1A, type 1B, type 2, type 3 and type 4. Type 2 is the most common and type 1A is the most severe type with no pigment synthesis with age. Other types are milder and develop pigmentation over time. A 6-year-old boy, born out of a consanguineous marriage presented with congenital onset of complete lack of pigment in the skin, hair, eyebrows and eyelashes along with photophobia and diminished vision. Ophthalmologic examination revealed bluish translucent iris, nystagmus, reduced visual acuity and foveal hypoplasia. Vitiligo, Chediak–Higashi syndrome, Hermansky-Pudlak syndrome and Cross syndrome are close differential disgnosis. Normal hematologic parameters and systemic examination, and characteristic ocular findings ruled out other simulating disorders. Management includes genetic counselling, use of bifocal glasses and photochromic lenses to correct low visual acuity and prevent photophobia. Nystagmus needs surgery and sunscreens are recommended to avoid sunburn.
KeywordsAlbinism Nystagmus Chediak–Higashi Hermansky pudlak