1. NASER KAMBERI - Direction Dentistry-Prishtina, University of Business and Technology (UBT), Calabria, Pristina, Kosovo.
2. HYZER RIZANI - University of Business and Technology (UBT) - Food Sciences and Biotechnology- Calabria, Prishtina. R. of Kosovo
The purpose of this paper is to investigate the type of mutation, the genesis of these two cases. This study was included in a sample of 10000 individuals of the Albanian population of Preserve and villages. Albinism is a rare inherited disorder manifested by complete or partial lack of pigment in the skin, hair or eyes due to a defect in melanin biosynthesis. It can be classified as oculocutaneous albinism (OCA), when it involves the hair, skin, and eyes, or ocular albinism (OA), when the phenotype is primarily limited to the eyes and optic system and is therefore associated with specific ocular changes. During family interviews we encountered two cases of oculocutaneous albinism (OCA), due to a reduced amount of melanin in the developing eye.1, 2 where a red light spot is seen. Classical OCA is usually inherited as an autosomal recessive trait due to mutations in four genes known as TYR, 3 P (OCA2), 4 TYRP1,5 and SLC45A2 (MATP), 6 which are responsible for type 1 OCA (OCA1, respectively). MIM 203100), type 2 (OCA2, MIM 203200), type 3 (OCA3, MIM 203290) and type 4 (OCA4, MIM 606574). Based on ophthalmological analysis both of these belong to the oculcutaneus albinism (OC-A) species, thus representing a mild phenotypic variant of OCA.8 OCA. Abnormalities of the eye and optic system are common to all types of albinism and are probably related to melanin reduction during embryonic development and early postpartum life.
OC-A albinism, heredity, TYRP 3,4, genetic trees, recessive alleles.