Albinism is a hereditary condition characterized by hypopigmentation in the skin, eye and hair due to enzymatic defect or lack of enzymes in the melanin synthesis pathway and affects 1 in 17,000 people worldwide. Ocular manifestation such as photophobia, abnormal decussation of the optic nerve, nystagmus, strabismus, foveal hypoplasia, iris trans-illumination, decrease in visual acuity, refractory errors and astigmatism are classically seen in patients with albinism. In rare situations other ocular manifestation such as keratoconus can be seen with albinism.egységes, osztatlanáltalános orvosango
Albinism is an uncommon genetic condition characterised by hypopigmentation of the hair, skin and ey...
Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to dat...
Purpose: To describe the phenotypic spectrum of a large cohort of albino patients, to investigate th...
Purpose: Albinism is a rare genetic disorder of melanin production, which can affect only eyes or si...
Albinism is a group of hereditary pathologies characterized by a violation or complete absence of sk...
Albinism refers to a group of genetically - determined disorders characterized by deficient melanin ...
Oculocutaneous albinism (OCA) is manifested by reduced synthesis of melanin, which may result from m...
Although albinism may be considered a simple diagnosis, its clinical manifestations, which include h...
Background: Albinism is a group of inherited genetic disorders of melanin biosynthesis which is char...
Purpose: The purpose of this thesis is to provide a comprehensive literature review about albinism a...
The term, albinism, is derived from albus, meaning white. Persons with albinism have decreased melan...
Albinism describes a heterogeneous group of genetically determined disorders characterized by disrup...
PURPOSE: To describe the phenotypic spectrum of a large cohort of albino patients, to investigate th...
PURPOSE. The purpose of this study was to identify the molecular basis of albinism in a large cohort...
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The...
Albinism is an uncommon genetic condition characterised by hypopigmentation of the hair, skin and ey...
Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to dat...
Purpose: To describe the phenotypic spectrum of a large cohort of albino patients, to investigate th...
Purpose: Albinism is a rare genetic disorder of melanin production, which can affect only eyes or si...
Albinism is a group of hereditary pathologies characterized by a violation or complete absence of sk...
Albinism refers to a group of genetically - determined disorders characterized by deficient melanin ...
Oculocutaneous albinism (OCA) is manifested by reduced synthesis of melanin, which may result from m...
Although albinism may be considered a simple diagnosis, its clinical manifestations, which include h...
Background: Albinism is a group of inherited genetic disorders of melanin biosynthesis which is char...
Purpose: The purpose of this thesis is to provide a comprehensive literature review about albinism a...
The term, albinism, is derived from albus, meaning white. Persons with albinism have decreased melan...
Albinism describes a heterogeneous group of genetically determined disorders characterized by disrup...
PURPOSE: To describe the phenotypic spectrum of a large cohort of albino patients, to investigate th...
PURPOSE. The purpose of this study was to identify the molecular basis of albinism in a large cohort...
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The...
Albinism is an uncommon genetic condition characterised by hypopigmentation of the hair, skin and ey...
Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to dat...
Purpose: To describe the phenotypic spectrum of a large cohort of albino patients, to investigate th...