X-linked recessive ocular albinism

X-linked recessive ocular albinism is a rare condition that mainly affects the eyes in males. This disorder is marked by changes in eye pigment, development of the central part of the retina (foveal hypoplasia), involuntary eye movements (nystagmus), light sensitivity (photodysphoria), and overall reduced clarity of vision. The condition is inherited in an X-linked recessive manner, meaning that changes in a specific gene transmitted on the X chromosome play a key role in its development. It is known by several names, including Nettleship-Falls syndrome and ocular albinism type 1, reflecting some of the features observed in affected individuals.

People with this condition often have less pigment in the eyes, which can lead to lighter colored eyes or unusual pigmentation patterns. They may also experience underdevelopment of the central retina (foveal hypoplasia), involuntary rapid eye movements (nystagmus), increased sensitivity to bright light (photodysphoria), and generally lower visual sharpness.

X-linked recessive ocular albinism is caused by genetic changes that are passed on through the X chromosome. The gene known as GPR143 is involved in this condition. Since the disorder follows an X-linked recessive pattern, it primarily affects males, who have only one X chromosome, while females can be carriers with less or no symptoms.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.