albinism ocular manifestations
Eye abnormalities associated with albinism including reduced pigmentation, foveal hypoplasia, and chiasmal misrouting.
Full Definition
Ocular manifestations of albinism represent a complex set of developmental abnormalities affecting visual function in children with various forms of albinism. Key features include iris transillumination due to reduced melanin, foveal hypoplasia with absent or reduced foveal pit, reduced visual acuity, pendular nystagmus, and abnormal crossing of optic nerve fibers at the chiasm (misrouting). These changes result in reduced stereopsis, photophobia, and characteristic visual evoked potential patterns. The severity varies among different types of albinism, with oculocutaneous albinism typically showing more pronounced findings than ocular albinism. Early recognition is important for appropriate visual rehabilitation and genetic counseling.
Usage
Usage note: Specify type of albinism when known; document all ocular features comprehensively.
In Context
- "The infant with oculocutaneous albinism showed typical ocular manifestations including iris transillumination and pendular nystagmus." — Genetic consultation report
- "Visual evoked potentials confirmed chiasmal misrouting consistent with albinism ocular manifestations." — Electrophysiology report