Ophthalmology AdvisorOphthalmology Dx: Maybe She’s Born With It, Maybe It Was Inherited

🧩 Diagnostic Reasoning Exercise / Teaching Case

A 23-year-old woman born at 32 weeks with a family history of ophthalmic problems presented with 3 months of bilateral blurry vision and new floaters. Visual acuity was 20/125 OD and 20/100 OS, with IOP 21 and 22 mm Hg.

Diagnostic Considerations

• Dilated exam revealed bilateral temporal exudative response with neovascularization, traction, and posterior vessel straightening, more pronounced asymmetrically across eyes.
• FAF showed a ring of hypoautofluorescence with central hyperautofluorescence; OCT demonstrated thin epiretinal membranes and perifoveal loss of outer retinal layers with mottled ellipsoid zone.
• FA identified posterior pole staining, inferotemporal vascular tortuosity with mild leakage, and adjacent capillary dropout suggestive of a vascular-developmental process.
• Bilateral involvement with diffuse photoreceptor degeneration argues against a typically unilateral primary retinal vascular disorder and points toward an inherited dystrophy with secondary vascular features.

Practice Pearls

• Recognize that inherited retinal dystrophies can mimic primary vascular disorders on initial presentation.
• Integrate multimodal imaging (FAF, OCT, FA) before anchoring on a vascular-only diagnosis.
• Consider comprehensive genetic evaluation when bilateral exudative retinopathy coexists with structural retinal abnormalities.
• Recognize that vascular complications in inherited retinal disease may be treatment-amenable with established retinal interventions.