albinism
Pronunciation: AL-bin-izm
A group of inherited conditions causing reduced melanin production, resulting in characteristic ocular abnormalities including nystagmus and foveal hypoplasia.
Full Definition
Albinism encompasses several genetic conditions characterized by reduced or absent melanin production, leading to distinctive neuro-ophthalmological findings. Ocular manifestations include congenital nystagmus, iris transillumination, foveal hypoplasia, and misrouting of retinogeniculate pathways. These abnormalities result in reduced visual acuity and abnormal binocular vision development. Types include oculocutaneous albinism (affecting skin, hair, and eyes) and ocular albinism (primarily affecting the visual system), each requiring specific genetic and ophthalmological evaluation.
Usage
Usage note: Associated with specific patterns of visual pathway development abnormalities.
In Context
- "The patient's albinism was confirmed by characteristic iris transillumination and foveal hypoplasia." — pediatric ophthalmology report
- "Genetic testing revealed oculocutaneous albinism type 2 with typical neuro-ophthalmological features." — genetics consultation