Multifocal vitelliform dystrophy is also known by which alternative name?

Adult-onset foveomacular vitelliform dystrophy MFVD, also called adult-onset foveomacular vitelliform dystrophy, is a bestrophinopathy producing bilateral multiple yellowish subretinal deposits resembling egg yolks.

Juvenile X-linked retinoschisis

North Carolina macular dystrophy

Which genes are implicated in multifocal vitelliform dystrophy?

BEST1 and PRPH2 Mutations in BEST1 or PRPH2 disturb bestrophin-1, a chloride channel essential for retinal pigment epithelial health, and are inherited in autosomal dominant fashion.

During which decades of life does multifocal vitelliform dystrophy typically begin?

The fourth to sixth decades Onset is typically in the fourth to sixth decade of life; the condition is rare but increasingly recognised with improved retinal imaging.

Which stage of multifocal vitelliform dystrophy shows gravity-dependent layering of vitelliform material?

The pseudohypopyon stage In the pseudohypopyon stage the vitelliform material layers under gravity and the lesions become more irregular before the vitelliruptive and atrophic stages follow.

What does optical coherence tomography show in multifocal vitelliform dystrophy?

Hyperreflective vitelliform deposits in the subretinal space OCT reveals hyperreflective vitelliform deposits at the subretinal space, with progressive RPE thinning and photoreceptor loss in later stages.

Schisis cavities splitting the inner nuclear layer

Vitreomacular traction with a lamellar hole

Deep optic disc cupping with lamina cribrosa bowing

What does fundus autofluorescence show in early multifocal vitelliform dystrophy lesions?

Hyperautofluorescence of the lesions Early lesions are hyperautofluorescent on FAF, becoming mottled in later stages, while fluorescein angiography shows minimal leakage.

Complete absence of any autofluorescence signal

A dark choroid with blocked background signal

Peripapillary hypoautofluorescent wedges

Which feature distinguishes multifocal vitelliform dystrophy from Best disease?

Multiple lesions with adult onset rather than one childhood lesion Best disease usually presents in childhood with a single central lesion and different genetic inheritance, whereas MFVD is adult-onset with multiple vitelliform foci.

The presence of confluent soft drusen at the macula

An entirely unilateral distribution of the lesions

Complete absence of subretinal deposits on imaging

Which finding argues against age-related macular degeneration and favours multifocal vitelliform dystrophy?

Absence of drusen and choroidal neovascularisation MFVD lacks the drusen and choroidal neovascularisation typical of age-related macular degeneration, which is one of its key differentiating features.

Presence of pisciform flecks across the posterior pole

Subretinal fluid with a smokestack leak

Metamorphopsia with a central scotoma

Which intervention is indicated if choroidal neovascularisation complicates multifocal vitelliform dystrophy?

Anti-VEGF therapy Anti-VEGF therapy is reserved for choroidal neovascularisation complicating the dystrophy; gene therapy remains under investigation.

Pars plana vitrectomy with membrane peel

Systemic corticosteroids in tapering dose

How is the visual prognosis of multifocal vitelliform dystrophy best described?

Variable, with slower progression but possible irreversible atrophy The course is variable: some patients keep relatively stable vision while others progress, and progression is slower than in other dystrophies though atrophy is irreversible.

Uniform blindness within two years of diagnosis

Complete spontaneous resolution in most patients

Rapid loss faster than any other retinal dystrophy

Multifocal Vitelliform Dystrophy - Ophthalmology Education

Case Study

A 45-year-old female presented with progressive difficulty in reading and mild central vision distortion over the past five years.

Her medical and systemic history was unremarkable, but she reported a family history of macular degeneration. Best-corrected visual acuity (BCVA) was 20/30 in both eyes.

Fundus examination revealed multiple, yellowish, vitelliform lesions at the macula and posterior pole. Optical coherence tomography (OCT) showed hyperreflective deposits at the subretinal space, suggestive of Multifocal Vitelliform Dystrophy (MFVD).

Genetic testing confirmed a mutation in the BEST1 gene. The patient was advised on regular follow-ups, genetic counseling, and low-vision rehabilitation strategies.

Disease Entity

Multifocal Vitelliform Dystrophy (MFVD), also known as Adult-Onset Foveomacular Vitelliform Dystrophy, is a progressive retinal dystrophy characterized by bilateral, multiple, yellowish subretinal deposits resembling egg yolks.

It is part of the bestrophinopathies, affecting the retinal pigment epithelium (RPE) and photoreceptors, leading to gradual vision impairment.

MFVD shares similarities with Best disease but presents in adulthood and exhibits multiple vitelliform lesions.

Test your knowledge 10 questions from this article

Pathophysiology

MFVD results from mutations in the BEST1 or PRPH2 genes, leading to the dysfunction of bestrophin-1, a chloride channel essential for RPE health.

The disease progresses through several stages:

Early Stage:
- Accumulation of lipofuscin-like deposits in the subretinal space.
- Mild visual symptoms or asymptomatic.
Vitelliform Stage:
- Yellow lesions form in the macula, resembling Best disease but with multiple foci.
- Vision loss is mild to moderate.
Pseudohypopyon Stage:
- Gravity-dependent layering of vitelliform material.
- Lesions become more irregular.
Vitelliruptive Stage:
- Disruption of vitelliform material leads to mottled hyper/hypopigmentation.
- Patients experience a progressive visual decline.
Atrophic Stage:
- Photoreceptor loss and RPE atrophy lead to permanent central vision loss.

Epidemiology

Onset: Typically in the 4th to 6th decade of life.
Prevalence: Rare, but increasingly recognized with improved imaging techniques.
Genetics: Autosomal dominant inheritance, primarily linked to BEST1 and PRPH2 mutations.

Clinical Features

Symptoms

Mild to moderate vision loss (gradual progression).
Metamorphopsia (distorted vision).
Central or paracentral scotomas.
Mild photophobia in some cases.

Fundoscopic Findings

Bilateral yellow vitelliform lesions in the macula and posterior pole.
Lesions can vary in size and shape, sometimes mimicking pattern dystrophies.
RPE alterations with pigment clumping in later stages.

Imaging Findings

Optical Coherence Tomography (OCT):
- Hyperreflective vitelliform deposits at the subretinal space.
- Progressive RPE thinning and photoreceptor loss in later stages.
Fundus Autofluorescence (FAF):
- Hyperautofluorescence in early lesions, with mottled autofluorescence in later stages.
Fluorescein Angiography (FA):
- Minimal leakage (helps differentiate from inflammatory or exudative conditions).

Differential Diagnosis

Best Disease: Typically presents in childhood with a single central lesion and different genetic inheritance.
Age-Related Macular Degeneration (AMD): MFVD lacks drusen and choroidal neovascularization (CNV).
Pattern Dystrophies: Some overlap in fundus appearance, but genetic and imaging studies can differentiate.
Central Serous Chorioretinopathy (CSCR): Presence of subretinal fluid without characteristic vitelliform deposits.
Stargardt Disease: Presence of pisciform flecks and earlier age of onset.

Diagnosis

Clinical history and family history are crucial.
Multimodal imaging (OCT, FAF, FA) is essential for diagnosis.
Genetic testing (BEST1, PRPH2 mutations) for confirmation in uncertain cases.

Management

Observation and Monitoring

Regular follow-up with OCT and FAF to track disease progression.
Amsler grid monitoring at home for early detection of visual changes.

Supportive Care

Low-Vision Aids: Magnifiers, contrast-enhancing filters.
Blue-Light Blocking Lenses: May reduce phototoxicity effects.
Nutritional Supplements: Lutein, zeaxanthin, and omega-3 fatty acids may provide some retinal protection.

Interventional Options

Anti-VEGF Therapy: If CNV develops as a complication.
Gene Therapy: Currently under investigation.

Prognosis

Variable disease course: Some patients maintain relatively stable vision, while others progress to severe vision loss.
Slower progression compared to other dystrophies, but irreversible atrophic changes can occur in later stages.

Conclusion

Multifocal Vitelliform Dystrophy is a progressive retinal dystrophy caused by genetic mutations affecting the retinal pigment epithelium and photoreceptors.

It presents with bilateral vitelliform deposits, gradual visual decline, and distinct OCT features. Diagnosis relies on multimodal imaging and genetic analysis, with management focusing on monitoring, low-vision rehabilitation, and potential future gene therapies.

References

Boon CJ, Klevering BJ, Keunen JE, et al. “Retinal dystrophies associated with mutations in the BEST1 gene.” Prog Retin Eye Res. 2009;28(3):187-205.
Meunier I, Manes G, Bocquet B, et al. “Frequency and clinical patterns of bestrophinopathy associated with PRPH2 mutations.” Retina. 2015;35(7):1402-1411.
Battaglia Parodi M, Romano F, Bandello F. “Multimodal imaging in vitelliform dystrophies.” Ophthalmologica. 2019;241(4):233-245.
Sodi A, Passerini I, Murro V, et al. “BEST1 and PRPH2 mutations in adult-onset vitelliform macular dystrophy: A long-term retrospective study.” Retina. 2018;38(6):1200-1211.

Test yourself

A few questions straight from this article.

1 / 10 0 correct

Multifocal vitelliform dystrophy is also known by which alternative name?
MFVD, also called adult-onset foveomacular vitelliform dystrophy, is a bestrophinopathy producing bilateral multiple yellowish subretinal deposits resembling egg yolks.
Which genes are implicated in multifocal vitelliform dystrophy?
Mutations in BEST1 or PRPH2 disturb bestrophin-1, a chloride channel essential for retinal pigment epithelial health, and are inherited in autosomal dominant fashion.
During which decades of life does multifocal vitelliform dystrophy typically begin?
Onset is typically in the fourth to sixth decade of life; the condition is rare but increasingly recognised with improved retinal imaging.
Which stage of multifocal vitelliform dystrophy shows gravity-dependent layering of vitelliform material?
In the pseudohypopyon stage the vitelliform material layers under gravity and the lesions become more irregular before the vitelliruptive and atrophic stages follow.
What does optical coherence tomography show in multifocal vitelliform dystrophy?
OCT reveals hyperreflective vitelliform deposits at the subretinal space, with progressive RPE thinning and photoreceptor loss in later stages.
What does fundus autofluorescence show in early multifocal vitelliform dystrophy lesions?
Early lesions are hyperautofluorescent on FAF, becoming mottled in later stages, while fluorescein angiography shows minimal leakage.
Which feature distinguishes multifocal vitelliform dystrophy from Best disease?
Best disease usually presents in childhood with a single central lesion and different genetic inheritance, whereas MFVD is adult-onset with multiple vitelliform foci.
Which finding argues against age-related macular degeneration and favours multifocal vitelliform dystrophy?
MFVD lacks the drusen and choroidal neovascularisation typical of age-related macular degeneration, which is one of its key differentiating features.
Which intervention is indicated if choroidal neovascularisation complicates multifocal vitelliform dystrophy?
Anti-VEGF therapy is reserved for choroidal neovascularisation complicating the dystrophy; gene therapy remains under investigation.
How is the visual prognosis of multifocal vitelliform dystrophy best described?
The course is variable: some patients keep relatively stable vision while others progress, and progression is slower than in other dystrophies though atrophy is irreversible.

Multifocal Vitelliform Dystrophy