Chediak-Higashi syndrome is a rare autosomal recessive disorder due to a qualitative defect in leucocyte function characterized clinically by partial oculocutaneous albinism, recurrent bacterial infections, photophobia etc. The diagnostic feature is the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors. Here we report this syndrome in two siblings who pres...

Among a range of inherited skin disorders, some of markedly severe phenotypes have been widely considered as indications for prenatal diagnoses. Recent studies have achieved significant progress in understanding the molecular basis of these heritable skin discases. These include epidermolysis bullosa (EB). a group ef mechanobullous genodermatoses, ichthyosis, a heterogeneous condition of gcnera...

Significant advances in the prenatal diagnosis of hereditary skin disorders, including severe forms of epidermolysis bullosa (EB) and tyrosinase-negative oculocutaneous albinism (OCA1A), have been reviewed. Fetal skin biopsy during the second trimester of pregnancy has been utilized successfully for the prenatal diagnosis of EB and OCA1A. Recently, elucidation of the specific gene mutation in a...

To the Editor, Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive inherited disorder characterized by variable degrees of oculocutaneous albinism, severe immune deficiency and unassociated lymphoproliferative syndrome, and intracytoplasmic giant granules in leukocytes, monocytes, platelets, melanocytes, and erythroid precursors [1,2,3,4,5]. CHS is caused by mutations in the lysosomal...

• All children who have undergone bilateral cataract operations, both those with pseudophakia and those with aphakia • People with diabetic macular oedema whose vision remains poor despite laser treatment • People with age-related macular degeneration • Children with oculocutaneous albinism • People with optic atrophy, whatever the cause • Any person who still has difficulty performing their da...

BACKGROUND Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism (OCA) attending to a tertiary eye hospital in Nepal. METHODS This was a cross-sectional descriptive hospital-based study of all diag...