Sex-linked hereditary bilateral anophthalmos. Pathologic and radiologic correlation

Area of Science:

• Neuroscience
• Ophthalmology
• Genetics

Background:

• X-linked true anophthalmos is a severe congenital condition characterized by the complete absence of ocular structures.
• Understanding the underlying neurodevelopmental alterations is crucial for comprehending visual pathway development.

Observation:

• A 27-year-old male patient presented with congenital X-linked true anophthalmos.
• Examination revealed a complete absence of optic globes, optic nerves, and the optic chiasm.
• Rudimentary optic tracts and gliotic lateral geniculate nuclei were identified.

Findings:

• The calcarine cortex, responsible for visual processing, was thinner than normal but retained its typical lamination.
• Crucially, the characteristic cytochrome oxidase blobs in layers II and III of the visual cortex were absent.
• This suggests a profound disruption in the functional organization of the visual cortex despite some structural preservation.

Implications:

• This case highlights the severe impact of anophthalmos on the development of the entire visual system, from the eye to the cortex.
• The absence of cytochrome oxidase activity provides insights into the functional deficits associated with congenital blindness.
• Further research can explore the genetic and developmental mechanisms underlying these neuroanatomical alterations.