Progressive hemifacial atrophy (Parry-Romberg disease)

Area of Science:

• Ophthalmology
• Neurology
• Genetics

Background:

• Parry-Romberg syndrome (hemifacial atrophy) is a rare condition causing progressive facial tissue loss, typically starting in early life.
• Ocular manifestations are frequent, including enophthalmos, eyelid changes, and strabismus.

Observation:

• Six cases of Parry-Romberg syndrome were analyzed for ocular and systemic findings.
• A notable observation was the consistent presence of pigmentary disturbances in the ocular fundus across all cases.
• One patient presented with an unusual acquired third nerve palsy on the side of the face unaffected by atrophy.

Findings:

• All six patients exhibited pigmentary fundus abnormalities, a previously underreported finding in this syndrome.
• The spectrum of ocular involvement in Parry-Romberg syndrome is broad, extending beyond common presentations.
• Systemic findings were also evaluated, though ocular manifestations and pigmentary changes were a key focus.

Implications:

• The consistent pigmentary fundus findings suggest a potential diagnostic marker or associated genetic component.
• Further research into the pathophysiology of Parry-Romberg syndrome is warranted, particularly regarding ocular and neurological sequelae.
• Understanding the full spectrum of Parry-Romberg syndrome aids in comprehensive patient management and diagnosis.