Polymorphous presentations in vitelliform macular dystrophy: subretinal neovascularisation and central choroidal...

Area of Science:

• Ophthalmology
• Medical Genetics

Background:

• Inherited macular dystrophies present diagnostic challenges due to variable fundus appearance.
• Distinguishing between different types of macular disease is crucial for appropriate patient management.

Observation:

• Two families with dominantly inherited macular dystrophies were studied.
• One family exhibited unilateral retinal hemorrhage and subretinal choroidal neovascularization.
• The other family presented with bilateral central choroidal atrophy.

Findings:

• All affected individuals showed an abnormal electro-oculogram (EOG) and a normal electroretinogram (ERG).
• These results suggest a diagnosis of vitelliform macular dystrophy.
• Vitelliform macular dystrophy exhibits a wide range of expressivity and polymorphous fundus appearances.

Implications:

• The diagnosis of vitelliform macular dystrophy is best supported by a dominant inheritance pattern and abnormal EOG.
• This highlights the importance of electrophysiological testing in diagnosing macular dystrophies with variable phenotypes.
• Accurate diagnosis facilitates genetic counseling and potential future therapeutic strategies.