Bilateral retinal detachment in Werner syndrome.

Area of Science:

• Ophthalmology
• Genetics
• Retinal Diseases

Background:

• Werner syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging.
• Ocular manifestations are common in WS, but bilateral retinal detachment is an infrequent complication.

Observation:

• A 44-year-old woman with diagnosed Werner syndrome presented with bilateral posterior pole retinal detachment.
• Fundus examination revealed patchy chorioretinal atrophy and excessively liquefied vitreous with a tightly adherent posterior hyaloid membrane in both eyes.
• Retinal breaks were noted along the superotemporal arcade overlying areas of chorioretinal atrophy.

Findings:

• Surgical reattachment of the retina was achieved in both eyes following successful vitrectomy procedures.
• The observed chorioretinal atrophy and vitreous liquefaction were disproportionately severe for the patient's age and axial length.
• These findings suggest accelerated aging processes affecting the vitreoretinal interface.

Implications:

• The vitreoretinal changes observed in this WS patient may be attributed to the accelerated aging phenotype.
• This case underscores the importance of comprehensive ophthalmic evaluation in patients with Werner syndrome to detect and manage potential sight-threatening conditions.
• Further research into the specific mechanisms of premature aging-related ocular pathology is warranted.