3 rezultātiem
Ochronosis or alkaptonuria is a rare, autosomal recessive metabolic disease where the enzyme homogentisic acid 1,2-dioxygenase is missing. This enzyme is necessary in the oxidation of phenylalanine and tyrosine. As a result of this defect homogentisic acid, which is normally produced during the
BACKGROUND
Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autosomal-recessive inherited in men with a frequency of
OBJECTIVE
Albinism involves the mutation of one or more of the genes associated with melanin synthesis and has many ramifications for vision. This study focuses on the refractive implications of albinism in the context of emmetropization.
METHODS
Refractive, biometric, and visual acuity data were