Achromatopsia – Types, Complications and Prevention

Definition Achromatopsia is an inherited retinal degeneration (IRD) characterised by partial or total colour blindness, in addition to other visual symptoms. The rod and cone photoreceptor cells are responsible for capturing the visual field. The rod cells perceive dim light (scotopic vision), are not sensitive to colour and are responsible …

Read More »

Azoospermia – Types, Treatment and Prevention

Definition Azoospermia is a medical condition characterized by the absence of sperm in a man’s ejaculate. Sperm, the male reproductive cells, are essential for fertilizing an egg and initiating the process of conception. Azoospermia can be classified into two main types: obstructive and non-obstructive. In obstructive azoospermia, there is a …

Read More »

Vici Syndrome – Causes, Treatment and Prevention

Overview Vici syndrome, also known as immunodeficiency with cleft lip/palate, hypopigmentation, and absent corpus callosum, is an extremely rare genetic disorder characterized by a combination of distinctive features affecting various systems of the body. Individuals typically exhibit immune system deficiencies, resulting in an increased susceptibility to infections. This immunodeficiency is …

Read More »

Shwachman-Diamond Syndrome – Causes, and Treatment

Overview Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that primarily affects the pancreas, bone marrow, and skeletal system. It is an autosomal recessive condition, meaning that individuals with SDS inherit a mutated gene from both parents. The syndrome is caused by mutations in the SBDS gene, which plays a …

Read More »