Bestrophinopathy

Bestrophinopathy is an umbrella term for several inherited eye conditions caused by changes (variants) in a gene called BEST1. This gene helps retinal pigment epithelium (RPE) cells regulate ions and fluid at the back of the eye. When BEST1 does not work properly, waste like lipofuscin can build up, the macula may swell, and vision can slowly get worse. Some people develop vitelliform (“egg-yolk”) deposits in the macula, while others have wider retinal problems or issues at the front of the eye. These diseases form a spectrum, often starting in childhood or early adulthood, and they vary in severity from mild to significant visual loss. NCBI+2PMC+2

Bestrophinopathy is a group of inherited eye diseases caused by changes in the BEST1 gene. This gene makes a protein called bestrophin-1 in the retinal pigment epithelium (RPE), the cell layer that supports the light-sensing retina. When BEST1 does not work, the RPE cannot handle ions and fluid normally. This leads to yellow lipofuscin deposits, fluid under or within the retina, and sometimes new leaky blood vessels under the macula. These changes blur central vision. Some people have the autosomal dominant form (Best disease). Others have autosomal recessive bestrophinopathy (ARB) when both copies of BEST1 are faulty. NCBI+2PMC+2

In ARB, the disease often starts in childhood or early adulthood. Doctors see many small yellow spots in the retina, fluid in or under the macula, and a very low electro-oculogram (EOG) “Arden ratio,” which is a test of RPE function. People with ARB often are far-sighted and can have narrow drainage angles in the front of the eye, which raises the risk of angle-closure glaucoma. PMC+2MDPI+2

In bestrophinopathies, a simple office exam may show yellowish macular lesions, but many cases need modern imaging and electrodiagnostic tests to confirm the diagnosis. A hallmark is a reduced EOG (electro-oculogram) Arden ratio, which reflects abnormal RPE function. Genetic testing for BEST1 variants usually confirms which subtype a person has. EyeWiki+1

Other names

Doctors may use several names for conditions in this family. The group name is bestrophinopathies. Within the group, the classic macular form is called Best vitelliform macular dystrophy (BVMD or Best disease); late-onset cases are often called adult-onset vitelliform macular dystrophy (AVMD); the recessive form is autosomal recessive bestrophinopathy (ARB); and a broader dominant form is autosomal dominant vitreoretinochoroidopathy (ADVIRC). All are tied to BEST1 variants. NCBI+1

Types

1) Best vitelliform macular dystrophy (BVMD, “Best disease”).
Usually autosomal dominant. Children or teens develop a round, egg-yolk macular lesion that can pass through stages (from vitelliform to “scrambled egg” and atrophy). EOG is reduced even when vision seems good. Central vision may blur slowly; some develop choroidal neovascularization (CNV). EyeWiki+1

2) Adult-onset vitelliform macular dystrophy (AVMD).
Similar deposits appear later in life, are often smaller and more subtle, and may cause mild metamorphopsia or blurring. AVMD overlaps with other pattern dystrophies and needs imaging plus EOG/genetics to distinguish. EyeWiki

3) Autosomal recessive bestrophinopathy (ARB).
Caused by biallelic BEST1 variants. It often shows widespread RPE disturbance, subretinal fluid, cystoid macular changes, hyperopia, and sometimes narrow angles or angle-closure glaucoma. It tends to progress slowly, but complications like CNV can reduce vision without treatment. Orpha+2PubMed+2

4) Autosomal dominant vitreoretinochoroidopathy (ADVIRC).
A rarer form with peripheral retinal degeneration, pigmentary changes, and choroidal atrophy. Patients can have more global retinal involvement than in BVMD. NCBI

Causes and risk factors

For this disease family, the root cause is genetic change in BEST1. Below are the main genetic and biological causes, plus factors that can worsen or reveal problems.

1. Pathogenic BEST1 variants (dominant or recessive). Different variants disrupt bestrophin-1 channel function in RPE cells and drive all bestrophinopathies. PMC

2. Missense changes in BEST1. Single amino-acid substitutions are common and can alter channel gating or conductance. PMC

3. Nonsense/frameshift variants. These can truncate the protein and abolish channel function, often in recessive disease. PMC

4. Splice-site variants. They can change how BEST1 is assembled from RNA, producing a faulty protein. PMC

5. Biallelic (two-copy) variants. Having two faulty copies typically causes ARB with broader retinal and anterior-segment signs. Orpha

6. Dominant-negative effects. Some dominant variants interfere with normal protein from the healthy allele, producing BVMD/ADVIRC. PMC

7. Impaired chloride/ion transport in RPE. Faulty channels upset fluid balance under the retina, leading to subretinal fluid and vitelliform deposits. MedlinePlus

8. Lipofuscin accumulation. Waste builds in RPE because ion and fluid handling—and possibly phagocytosis—are disturbed. webeye.ophth.uiowa.edu

9. Secondary macular edema. Fluid leaks into the macula when the RPE pump fails, worsening blur. PubMed

10. Choroidal neovascularization (CNV). New, fragile vessels can grow and bleed when the RPE/Bruch’s membrane interface is abnormal. Medscape

11. Anterior segment anomalies in ARB. Some patients have narrow angles and are prone to angle-closure glaucoma. Orpha+1

12. Hyperopia (farsightedness). Common in ARB; refractive status may reflect ocular development differences. PubMed

13. Phenotypic heterogeneity. The same gene can cause different clinical pictures; modifiers and environment may shape severity. PubMed

14. Age-related change. AVMD appears later; aging may unmask disease in people with milder variants. EyeWiki

15. Mechanical/physiologic stress. Changes in RPE adhesion and ionic balance can destabilize the photoreceptor-RPE interface. NCBI

16. Inflammation or secondary insults. Any added retinal stress (e.g., CNV leakage) can accelerate damage. ScienceDirect

17. Family history. Dominant forms often affect multiple relatives; family screening is important. EyeWiki

18. Founder variants in specific populations. Certain groups can share a common pathogenic variant. BioMed Central

19. Misdiagnosis delaying care. Confusion with AMD or central serous chorioretinopathy can postpone correct management. (Inference consistent with imaging/EOG patterns described for BVMD/AVMD.) EyeWiki

20. Lack of genetic testing access. Without testing, people may miss counseling and targeted surveillance for CNV and glaucoma risk. NCBI

Common symptoms

1. Blurry central vision. The macula is affected early, so fine detail fades. EyeWiki

2. Metamorphopsia (wavy lines). Distortion appears when the macula is swollen or disrupted. EyeWiki

3. A central dark or gray spot (scotoma). Especially with chronic deposits or atrophy. EyeWiki

4. Trouble reading or recognizing faces. Tasks needing sharp central vision become hard. EyeWiki

5. Color vision changes. Macular dysfunction can dull or shift colors. EyeWiki

6. Glare and light sensitivity. RPE dysfunction can increase glare discomfort. EyeWiki

7. Slow, stepwise changes. Vision may stay stable for years, then worsen with new fluid or CNV. PubMed

8. Poor night vision (some cases). Peripheral involvement or widespread RPE change can reduce dark adaptation. NCBI

9. Floaters or haze (less common). Secondary fluid or blood from CNV may cause visual disturbance. Medscape

10. Headaches or eye pain with angle closure (ARB). Narrow angles can trigger painful spikes in eye pressure. Orpha

11. Hyperopia symptoms. Eye strain from farsightedness is common in ARB. PubMed

12. Asymmetry between eyes. One eye may change before the other. EyeWiki

13. Reduced contrast sensitivity. Images may seem washed out. EyeWiki

14. Stable peripheral vision (many BVMD/AVMD). Peripheral sight may remain good unless the phenotype is broader. NCBI

15. Family members with similar issues. In dominant forms, relatives often have related findings on exam or EOG. EyeWiki

Diagnostic tests

Physical examination (clinic exam)

1. Dilated fundus examination. The doctor looks for macular “egg-yolk” lesions, subretinal fluid, pigment changes, or atrophy, and surveys the retinal periphery in ADVIRC. This exam raises suspicion and guides imaging. EyeWiki

2. Visual acuity testing. Standard eye-chart checks track central vision over time and help judge treatment needs (e.g., for CNV). Medscape

3. Amsler grid testing. A simple square grid used at the clinic or home to detect wavy lines or new scotomas early. EyeWiki

4. Intraocular pressure and angle assessment. Tonometry plus gonioscopy or anterior-segment evaluation is important in ARB because narrow angles and angle closure can occur. Orpha

Manual/functional tests

5. Color vision testing. Plates or computerized tests check for macular-related color deficits, helping quantify subtle changes. EyeWiki

6. Contrast sensitivity testing. Measures how well faint patterns are seen; macular disease often lowers contrast before major acuity loss. EyeWiki

7. Accommodation/refraction testing. Finds hyperopia (common in ARB) and optimizes glasses for daily tasks. PubMed

8. Visual field testing (perimetry). Detects central scotomas and, in broader phenotypes, any peripheral field loss. NCBI

Lab and pathological / genetic tests

9. BEST1 genetic testing (targeted). Sequencing pinpoints disease-causing variants, clarifies inheritance (dominant vs recessive), and supports counseling and family testing. NCBI

10. Retinal dystrophy gene panel. If the picture is unclear, a panel can find atypical BEST1 variants or rule out look-alike diseases. NCBI

11. Segregation analysis in relatives. Testing parents/children helps confirm the disease model (e.g., biallelic ARB) and detect at-risk family members. NCBI

12. Research-level functional assays (select centers). Some laboratories study ion channel effects of a variant to understand severity and mechanism. PMC

Electrodiagnostic tests

13. Electro-oculogram (EOG). This measures RPE function; a reduced Arden ratio is a classic sign in Best disease and can be low in carriers. Normal is typically ≥1.8; values <1.65 are clearly abnormal. EyeWiki+2NCBI+2

14. Full-field electroretinogram (ERG). Usually near-normal in BVMD (a macula-predominant disease) but may be altered in ADVIRC or extensive disease; helps exclude diffuse rod-cone dystrophies. NCBI

15. Multifocal ERG (mfERG). Maps macular function; reduced central responses correlate with the patient’s symptoms and OCT findings. EyeWiki

Imaging tests

16. Optical coherence tomography (OCT). Cross-section images show subretinal fluid, vitelliform material, cystoid changes, and later atrophy; OCT helps guide treatment and monitor stability. EyeWiki

17. OCT angiography (OCTA). Non-invasive vascular imaging that can pick up early macular neovascularization in bestrophinopathies. ScienceDirect

18. Fundus autofluorescence (FAF). Highlights lipofuscin; vitelliform material typically shows hyper-autofluorescence, while atrophy appears dark. Great for mapping lesion size and change. EyeWiki

19. Fluorescein angiography (FA). Useful when CNV is suspected; shows leakage patterns and helps plan anti-VEGF or laser therapy if indicated. Medscape

20. Anterior-segment OCT or ultrasound biomicroscopy (ARB). These assess angle anatomy in patients at risk of angle closure and guide glaucoma prevention. Orpha

Non-pharmacological treatments (therapies and others)

1. Education and genetic counseling
   Description: A clinician explains the diagnosis in simple terms, reviews inheritance (dominant Best disease vs recessive ARB), and discusses family testing. Parents, siblings, and children can consider testing for BEST1 changes. The counselor also talks about life planning, school supports, and realistic expectations for vision over time. Purpose: Help families understand the disease, plan pregnancy options, and detect affected relatives early. Mechanism: Genetic testing confirms the BEST1 variant; counseling uses this to estimate risks for children and to plan screening and follow-up for relatives. NCBI+1

2. Regular imaging and functional monitoring (OCT, autofluorescence, EOG/ERG, visual acuity, Amsler grid)
   Description: Scheduled eye checks track retinal fluid, deposits, and any new abnormal vessels. OCT shows subtle fluid changes; autofluorescence highlights lipofuscin; acuity and Amsler track function at home between visits. Purpose: Detect changes early, especially new CNV that needs fast treatment. Mechanism: Objective imaging and simple home tests catch activity before major vision loss occurs. Medscape

3. Low-vision rehabilitation referral
   Description: Even mild vision loss can affect reading, school, driving decisions, and work. Vision rehab trains patients to use magnifiers, electronic CCTVs, smartphone accessibility, and orientation and mobility skills. Purpose: Maximize remaining vision and independence. Mechanism: Evidence-based rehab strategies improve task performance despite retinal damage. American Academy of Ophthalmology+1

4. High-contrast and magnification strategies
   Description: Use high-contrast print, bold pens, task lighting, large-print materials, and display zoom/reader modes. Purpose: Improve reading speed and comfort with central vision blur. Mechanism: Increases retinal image size and contrast to compensate for macular dysfunction. PMC

5. Glare control and light management
   Description: Use hats, visors, and selective filters; adjust ambient and task lighting. Purpose: Reduce light scatter that worsens contrast sensitivity. Mechanism: Filters and controlled illumination reduce photostress in diseased macula and RPE. PMC

6. Digital accessibility & assistive tech
   Description: Configure screen readers, high-contrast themes, voice assistants, and text-to-speech on phones/computers. Purpose: Maintain access to reading, school, and work. Mechanism: Software enlarges, enhances contrast, or vocalizes content to bypass macular detail loss. American Academy of Ophthalmology

7. School and workplace accommodations
   Description: Provide front-row seating, enlarged handouts, extended test time, and ergonomic setups. Purpose: Support learning and performance with central vision limitations. Mechanism: Environmental adjustments minimize dependence on fine central vision. PMC

8. Driving assessment and safety counseling
   Description: Assess legal vision standards; discuss night driving and glare risks; consider driver rehab. Purpose: Keep the patient and public safe. Mechanism: Matches function with legal and practical requirements; alternative transport planning if needed. PMC

9. Sun/UV protection
   Description: Wear UV-blocking lenses outdoors. Purpose: General retinal protection and comfort. Mechanism: Reduces UV/blue-light exposure that can increase photochemical stress in vulnerable RPE/retina. PMC

10. Smoking cessation counseling
    Description: Discuss quitting tools and referral. Purpose: Lower oxidative stress linked to retinal disease progression; avoid beta-carotene risks in smokers if supplements are later considered. Mechanism: Reduces systemic oxidative damage that can affect retinal health. National Eye Institute+1

11. Nutrition coaching (evidence-guided)
    Description: Promote a balanced diet rich in leafy greens, colorful vegetables, and fish, while managing weight and cardiovascular health. Purpose: Support overall eye and vascular health. Mechanism: Antioxidant- and omega-3-rich foods support retinal metabolism, though AREDS2 benefits are specific to AMD and not proven in bestrophinopathy. National Eye Institute+1

12. Home safety and task modification
    Description: Improve lighting, declutter, label items with large font, and use tactile markers. Purpose: Reduce falls and daily task strain. Mechanism: Environmental changes compensate for reduced central detail and contrast. PMC

13. Psychological support and peer groups
    Description: Offer counseling and connect patients to low-vision communities. Purpose: Reduce anxiety, improve coping and adherence. Mechanism: Behavioral supports address the mental load of chronic vision disorders. PMC

14. Ocular hypertension/angle monitoring in ARB
    Description: Check intraocular pressure (IOP), gonioscopy, and axial length regularly. Purpose: Catch angle-closure risk early. Mechanism: ARB eyes are often short and hyperopic with narrow angles; proactive surveillance prevents acute angle closure. PMC+1

15. Emergency plan for sudden vision drop
    Description: Teach patients to call urgently for sudden distortion, scotoma, or central blur. Purpose: Quick treatment of CNV or hemorrhage saves vision. Mechanism: Early anti-VEGF therapy improves outcomes for new neovascularization. BMJ Open

16. Reading strategies (eccentric viewing)
    Description: Train to place images on healthier retina just off the central damage. Purpose: Improve reading and face recognition. Mechanism: Neuro-visual training uses preferred retinal loci to compensate for macular damage. PMC

17. Color and contrast enhancement for print and screens
    Description: Use high-contrast templates, bold fonts, dark mode or light mode as preferred. Purpose: Improve legibility. Mechanism: Enhances signal-to-noise at the retinal level to offset low contrast sensitivity. PMC

18. Workplace ergonomics and frequent breaks
    Description: Use larger monitors, proper viewing distance, and 20-20-20 breaks. Purpose: Reduce eyestrain and maintain productivity. Mechanism: Optimizes visual demand to the patient’s functional capacity. PMC

19. Family screening
    Description: Offer eye exams and, when appropriate, genetic testing to relatives. Purpose: Early identification and monitoring. Mechanism: Inherited pattern means family members can be affected or at risk. NCBI

20. Participation in clinical research when available
    Description: Discuss registry enrollment and future gene or cell therapy trials as eligibility appears. Purpose: Access emerging treatments. Mechanism: Gene and cell therapy strategies are in preclinical/early clinical development for BEST1-related disease. ScienceDirect

---

Drug treatments

Important note: No drug is FDA-approved specifically for “bestrophinopathy.” Clinicians use FDA-approved intravitreal anti-VEGF medicines (approved for wet AMD/DME/RVO/DR) off-label to treat CNV secondary to bestrophinopathy. Doses and safety below are from FDA labels; indication wording is from labels for the approved diseases, not for bestrophinopathy. Evidence for bestrophinopathy itself comes from case series and reports. FDA Access Data+3FDA Access Data+3FDA Access Data+3

1. Ranibizumab (Lucentis®)
   Class: anti-VEGF-A monoclonal antibody fragment. Dose/Time: Intravitreal 0.5 mg monthly for nAMD/RVO (0.3 mg monthly for DME/DR per label). Purpose: In bestrophinopathy, used off-label to treat CNV to stop leakage and protect central vision. Mechanism: Blocks VEGF-A to reduce neovascular leakage and growth. Side effects: Endophthalmitis, intraocular inflammation, increased IOP, and rare arterial thromboembolic events. Evidence note: Case reports/series show CNV from Best disease/ARB can respond to ranibizumab. journalmc.org+3FDA Access Data+3FDA Access Data+3

2. Aflibercept (Eylea®)
   Class: VEGF-A/PlGF decoy receptor fusion protein. Dose/Time: 2 mg every 4 weeks for loading, then often every 8 weeks (per label for nAMD/DME/DR/RVO). Purpose: Off-label for CNV in bestrophinopathy to control leakage with extended intervals. Mechanism: Traps VEGF-A and PlGF. Side effects: Endophthalmitis, intraocular inflammation, IOP rise; systemic arterial events are rare. FDA Access Data+1

3. Faricimab-svoa (Vabysmo®)
   Class: Bispecific antibody inhibiting VEGF-A and Ang-2. Dose/Time: Intravitreal; label supports treat-and-extend intervals for nAMD and DME. Purpose: Off-label for CNV in bestrophinopathy; dual pathway may improve durability. Mechanism: Blocks VEGF-A and Ang-2 to stabilize vessels. Side effects: Inflammation, IOP rise; contraindicated with ocular/periocular infection or active intraocular inflammation. FDA Access Data+1

4. Brolucizumab-dbll (Beovu®)
   Class: Single-chain anti-VEGF-A antibody fragment. Dose/Time: Intravitreal; labeled for nAMD with 3 monthly loading doses then 8–12-week intervals. Purpose: Off-label for CNV in bestrophinopathy when long durability is needed. Mechanism: Inhibits VEGF-A. Side effects: Risk of intraocular inflammation and retinal vasculitis/occlusion; careful monitoring is required. FDA Access Data+1

5. Aflibercept-abzv (ENZEEVU™)
   Class: Biosimilar to aflibercept. Dose/Time: Per label as a biosimilar to Eylea for labeled indications. Purpose: Off-label for CNV in bestrophinopathy as a cost-sensitive alternative where available. Mechanism/Side effects: Same target and expected risks as reference product. FDA Access Data

6. Verteporfin (Visudyne®) photodynamic therapy (drug component)
   Class: Photosensitizer for PDT. Dose/Time: IV verteporfin with timed laser activation; labeled for predominantly classic CNV in AMD, pathologic myopia, and presumed ocular histoplasmosis. Purpose: Rarely used now; may be considered if anti-VEGF is not possible. Mechanism: Photoactivation closes abnormal vessels. Side effects: Photosensitivity reactions; infusion reactions; strict light precautions for 48 hours. FDA Access Data+1

7. Acetazolamide (Diamox®) – systemic carbonic anhydrase inhibitor (CAI)
   Class: CAI diuretic; ophthalmic indication is lowering IOP; used off-label for certain macular edemas. Dose/Time: Common oral tablets 250 mg; regimens vary (e.g., 250–500 mg/day in divided doses; adjust per physician). Purpose: Off-label to reduce intraretinal or cystoid fluid in bestrophinopathies or related inherited diseases. Mechanism: Alters RPE fluid transport to reduce macular edema. Side effects: Paresthesias, fatigue, kidney stones, metabolic acidosis; caution in sulfonamide allergy. FDA Access Data+2FDA Access Data+2

8. Topical dorzolamide (CAI) (label is for glaucoma)
   Class: Topical CAI drop. Dose/Time: Usually 2% TID for glaucoma; off-label for macular fluid per specialist. Purpose: For patients who cannot take oral CAIs or as an add-on to reduce cystoid fluid. Mechanism: Similar RPE fluid effects at a local level. Side effects: Ocular irritation, bitter taste; caution with sulfonamide allergy. ScienceDirect

9. Topical brinzolamide (CAI) (glaucoma label)
   Class: Topical CAI drop. Dose/Time: Typically TID for glaucoma; off-label for retinal fluid. Purpose/Mechanism/Side effects: As above for dorzolamide. PLOS

10. Bevacizumab (Avastin®) – compounded for intravitreal use (off-label)
    Class: Anti-VEGF-A monoclonal antibody (oncology label). Dose/Time: Intravitreal (compounded) typically 1.25 mg; off-label ocular use. Purpose: Widely used off-label for ocular CNV, including ARB/Best disease cases. Mechanism: Blocks VEGF-A; reduces leakage. Side effects: Similar ocular injection risks; compounded use requires strict sterility. Evidence: Pediatric ARB series and case reports show benefit. Lippincott Journals+1

11. Treat-and-extend anti-VEGF regimens (protocol choice, not a drug)
    Class: Dosing strategy using the same labeled drugs. Dose/Time: Extend intervals if retina is dry. Purpose: Maintain control with fewer injections. Mechanism: Maintains VEGF suppression while reducing burden; supported by AMD evidence. Side effects: Same as anti-VEGF. JAMA Network

12. Short-course topical steroid (select cases only)
    Class: Anti-inflammatory drop (various labels). Dose/Time: Short, physician-directed courses if inflammatory component suspected. Purpose: Calm secondary inflammation; not routine for bestrophinopathy. Mechanism: Reduces inflammatory permeability. Side effects: IOP rise, cataract with prolonged use. Medscape

13. IOP-lowering agents for angle-closure risk
    Class: Many classes (beta-blockers, alpha-agonists, CAIs). Dose/Time: Per glaucoma labels. Purpose: Manage ocular hypertension in ARB eyes with narrow angles or after angle events. Mechanism: Reduces aqueous production or improves outflow. Side effects: Class-specific. PMC

14. Cycloplegic agents (situational)
    Class: Atropine/cyclopentolate (labels for uveitis/cycloplegia). Dose/Time: Short term if ciliary spasm/angle issues co-exist; physician-directed. Purpose: Comfort and angle management in specific scenarios. Mechanism: Relaxes ciliary body and widens angle dynamics. Side effects: Light sensitivity, near blur. PMC

15. Antimicrobial prophylaxis (procedure-related, not chronic)
    Class: Peri-injection antisepsis (povidone-iodine; antibiotics usually not indicated). Purpose: Prevent injection infection. Mechanism: Reduces surface bacterial load. Side effects: Ocular irritation from antiseptic. FDA Access Data

16. Analgesics/NSAIDs (supportive)
    Class: Systemic OTC analgesics as needed. Purpose: Comfort after procedures. Mechanism: Reduces pain pathways; no disease modification. Side effects: GI and bleeding risks with NSAIDs. FDA Access Data

17. Antibiotic-steroid eye ointment (post-procedure PRN)
    Class: Combination products. Purpose: Comfort and surface protection after injections per physician preference; not universally used. Mechanism: Lubrication and anti-inflammatory/antimicrobial effect. Side effects: Allergy, steroid IOP rise with prolonged use. FDA Access Data

18. Anti-VEGF biosimilars (as available)
    Class: Biosimilars to reference anti-VEGFs. Purpose: Cost-effective options for CNV care under the same principles. Mechanism/Side effects: Equivalent pathways; pharmacovigilance still important. FDA Access Data

19. Visudyne® PDT re-treatment protocols (historic/rare)
    Class: Repeat verteporfin infusions with timed laser. Purpose: In select non-responsive or contraindicated anti-VEGF cases. Mechanism: Photo-thrombosis of CNV. Side effects: Photosensitivity; limited role today. FDA Access Data

20. Combination strategies (anti-VEGF ± other agents, research)
    Class: Investigational combinations (e.g., novel traps with ranibizumab). Purpose: Aim for better durability in refractory CNV; research stage. Mechanism: Multi-pathway angiogenesis blockade. Side effects: Per components. Ophthalmology Science

---

Dietary molecular supplements

1. AREDS2-style antioxidants (vitamin C, vitamin E, zinc, copper)
   Long description: This formula slowed AMD progression in certain AMD patients. It has not been proven to help bestrophinopathy, but some clinicians consider antioxidant support in macular disease on a case-by-case basis. Dosage: Typical AREDS2 daily contains vitamin C 500 mg, vitamin E 400 IU, zinc 80 mg (or 25–40 mg in some versions), copper 2 mg. Function/mechanism: Antioxidant and zinc support may reduce oxidative stress in RPE. National Eye Institute+1

2. Lutein + zeaxanthin
   Long description: In AREDS2, replacing beta-carotene with lutein/zeaxanthin was at least as effective and safer for former smokers. Not proven for bestrophinopathy. Dosage: Often 10 mg lutein + 2 mg zeaxanthin daily. Function/mechanism: Macular carotenoids filter blue light and may protect photoreceptors. JAMA Network+1

3. Omega-3 fatty acids (DHA/EPA)
   Long description: Added omega-3 did not further reduce AMD progression in AREDS2, but dietary fish intake is linked to general eye health. Dosage: Common supplements supply 1 g/day EPA+DHA, but discuss with your doctor. Function/mechanism: May support photoreceptor membranes; not proven to alter bestrophinopathy. National Eye Institute

4. Balanced multivitamin if deficient
   Long description: Correcting general deficiencies supports overall retinal health. Dosage: Per daily RDA. Function/mechanism: Ensures key micronutrients for retinal metabolism. National Eye Institute

5. Dietary pattern (Mediterranean-style foods)
   Long description: Emphasize vegetables, fruits, legumes, whole grains, and fish. Dosage: Food-based approach, not pills. Function/mechanism: Antioxidant and anti-inflammatory nutrients support retinal cells; evidence is indirect for BEST1 disease. National Eye Institute

6. Avoid beta-carotene in smokers
   Long description: In AREDS/AREDS2 analyses, beta-carotene raised lung cancer risk in former smokers; lutein/zeaxanthin is the safer alternative. Dosage: Prefer AREDS2 without beta-carotene. Function/mechanism: Risk mitigation. JAMA Network

7. Hydration and electrolytes (general health)
   Long description: Maintain normal hydration and nutrition to support eye perfusion and overall health. Dosage: As per general guidelines. Function/mechanism: Systemic health supports ocular health; specific BEST1 effect unproven. PMC

8. Caffeine moderation
   Long description: High caffeine can transiently raise IOP in some people; moderation is reasonable, especially with narrow angles. Dosage: Limit to moderate intake. Function/mechanism: Reduce potential IOP spikes; evidence is general. PMC

9. Weight and blood pressure control
   Long description: Cardiometabolic wellness supports retinal vascular health. Dosage: Lifestyle measures guided by clinicians. Function/mechanism: Healthier vasculature supports the macula; indirect evidence. PMC

10. Avoid unproven “eye pills”
    Long description: Many supplements have big claims but no data in bestrophinopathy. Discuss all products with your ophthalmologist. Dosage: N/A. Function/mechanism: Safety and cost-effectiveness. National Eye Institute

---

Immunity booster / regenerative / stem-cell” drugs

1. Anti-VEGF agents (ranibizumab, aflibercept, faricimab, brolucizumab)
   Long description (~100 words): These are not “immunity boosters,” but they are core, evidence-based injections that stop abnormal CNV growth and leakage. They preserve vision when CNV occurs in bestrophinopathy. They are FDA-approved for other retinal diseases (wet AMD, DME, RVO, DR). Use in bestrophinopathy is off-label but supported by case reports and series. Dosage: Per labels (see above). Function/mechanism: VEGF pathway inhibition to reduce leakage and neovascular growth. FDA Access Data+3FDA Access Data+3FDA Access Data+3

2. Aflibercept-abzv (ENZEEVU™) biosimilar
   Long description: Biosimilar to aflibercept with comparable mechanisms and labeled uses; any bestrophinopathy use is off-label. Dosage: As per reference. Function/mechanism: VEGF trap to control CNV leakage. FDA Access Data

3. Verteporfin (Visudyne®) for photodynamic therapy
   Long description: A photosensitizer used with laser to close CNV in selected cases when anti-VEGF is not an option. Dosage: As per label protocol. Function/mechanism: Photo-thrombotic closure of CNV. FDA Access Data

4. Acetazolamide (Diamox®)
   Long description: Systemic CAI sometimes reduces cystoid macular edema in inherited retinal diseases; label indications differ. Dosage: 250–500 mg/day in divided doses when used off-label; physician-directed. Function/mechanism: Modifies RPE fluid transport to lessen retinal swelling. FDA Access Data

5. Topical CAIs (dorzolamide/brinzolamide)
   Long description: Eye drops that may help some patients with cystic changes and assist IOP control, especially with angle-closure risk. Dosage: Typically TID when used. Function/mechanism: Local CAI effect on fluid transport and IOP. PLOS

6. (Research) Gene/cell therapy candidates
   Long description: Preclinical and early research suggests BEST1 gene delivery or RPE cell approaches may help in the future. No FDA-approved gene therapy for BEST1 yet. Dosage: N/A (research). Function/mechanism: Restore bestrophin-1 or replace/support RPE. ScienceDirect

---

Surgeries

1. Intravitreal anti-VEGF injection (office-based procedure)
   Procedure: Eyelid/eye surface prep with antiseptic, small needle injection into the vitreous. Why: Treat CNV quickly to protect central vision. FDA Access Data+1

2. Laser photodynamic therapy (PDT) with verteporfin
   Procedure: IV verteporfin followed by timed laser to the lesion. Why: Alternative for selected CNV when anti-VEGF cannot be used or fails. FDA Access Data

3. Laser peripheral iridotomy (for angle-closure risk)
   Procedure: Small laser opening in the peripheral iris. Why: Prevent or treat angle-closure in ARB eyes with narrow angles. PMC

4. Glaucoma surgery (if needed)
   Procedure: Trabeculectomy or tube shunt for uncontrolled IOP. Why: Protect optic nerve when angle-closure leads to chronic high IOP. PMC

5. Pars plana vitrectomy (selected complications)
   Procedure: Microsurgery to clear vitreous hemorrhage, repair macular hole, or address traction. Why: Manage rare complications that threaten vision. EyeWiki

---

Preventions

There is no way to “prevent” a genetic BEST1 change. But you can reduce vision loss risks and catch problems early with the steps below. NCBI

1. Regular retina follow-up with OCT and autofluorescence. Detect new CNV or fluid early. Medscape

2. Prompt visits for sudden distortion or scotoma. Early anti-VEGF saves vision. BMJ Open

3. Manage angle-closure risk with periodic gonioscopy/IOP checks. PMC

4. Use sun/UV protection and glare control outdoors. PMC

5. Avoid smoking; choose AREDS2-style supplements without beta-carotene if ever advised. JAMA Network

6. Maintain cardiometabolic health and a balanced diet. National Eye Institute

7. Use low-vision strategies early (magnification, contrast). American Academy of Ophthalmology

8. Family screening and genetic counseling. NCBI

9. Know emergency signs and have a care path. BMJ Open

10. Consider research registries for updates on therapies. ScienceDirect

---

When to see doctors

See a retina specialist right away for sudden blurring, central dark spot, new distortion, or a drop in lines on your near chart. These are signs of new CNV and need urgent anti-VEGF treatment. Regularly see your ophthalmologist for OCT checks even if you feel stable. People with ARB should also have angle checks and IOP monitoring to prevent angle-closure glaucoma. Ask about genetic counseling for you and your family. BMJ Open+1

---

What to eat and what to avoid

What to eat: A balanced, Mediterranean-style pattern with leafy greens, colorful vegetables, legumes, whole grains, nuts, and fish. This supports overall retinal and vascular health. If a supplement is considered, doctors often prefer AREDS2-style (no beta-carotene) over older AREDS for safety in former smokers; remember, this evidence is for AMD, not bestrophinopathy. National Eye Institute+1

What to avoid: Smoking; unnecessary beta-carotene supplements if you are a current or former smoker; unproven “eye vitamins” marketed for genetic macular diseases without evidence; extreme low-light strain without proper task lighting; and missing scheduled retina checks. JAMA Network

---

Frequently asked questions (FAQs)

1) Is bestrophinopathy the same as Best disease?
Bestrophinopathy refers to BEST1-related diseases. Best disease is usually autosomal dominant. ARB is autosomal recessive and often more widespread in the retina. NCBI

2) What gene is involved?
BEST1 on chromosome 11 encodes bestrophin-1 in RPE cells. Mutations change RPE ion and fluid control. PMC

3) How is it diagnosed?
By history, eye exam, imaging (OCT/autofluorescence), electrical tests (often abnormal EOG), and genetic testing. Medscape+1

4) What is the Arden ratio?
It is an EOG light-peak/dark-trough ratio; it is reduced in Best disease and ARB. EyeWiki

5) Can vision return to normal?
Deposits and fluid may wax and wane. Vision can improve with successful CNV treatment, but the disease is lifelong. BMJ Open

6) Is there an FDA-approved drug for bestrophinopathy itself?
No. Doctors treat complications like CNV with FDA-approved anti-VEGF drugs off-label. FDA Access Data+1

7) Do anti-VEGF injections work for CNV in ARB/Best disease?
Case reports and series show they often help. Treatment plans are personalized. PMC+1

8) Are there pills or eye drops that cure it?
No cure. Acetazolamide or topical CAIs may reduce cystoid fluid in select cases, but responses vary and side effects exist. PMC

9) What about PDT (Visudyne®)?
PDT is now rarely used but may be an option if anti-VEGF is not possible. FDA Access Data

10) Will I get glaucoma?
ARB raises angle-closure risk in some patients due to anatomy; routine angle and IOP checks reduce danger. PMC

11) Can glasses or contacts fix the problem?
They correct refractive error (often hyperopia) but cannot fix RPE dysfunction. Low-vision tools can improve function. American Academy of Ophthalmology

12) Should my family be tested?
Yes, discuss genetic testing for relatives to confirm carrier or affected status and to plan monitoring. NCBI

13) Do diets or vitamins cure it?
No. Some AMD-based data inform antioxidant use, but this does not prove benefit in BEST1 disease. Use only under clinician guidance. National Eye Institute

14) Are gene or cell therapies coming?
Research is active for BEST1 gene and RPE cell therapy, but none is FDA-approved yet. ScienceDirect

15) How often should I be seen?
Your retina specialist will set the schedule. Many patients need 3–6-month visits, sooner with new symptoms or active treatment. Medscape

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: October 05, 2025.

PDF Documents For This Disease Condition References