Retinopathy Burgess-Black Type

Retinopathy, Burgess-Black type is a rare, inherited eye disease caused by harmful changes (mutations) in both copies of a gene called BEST1. This gene helps the retinal pigment epithelium (RPE)—a support layer under the retina—move salts and fluids. When BEST1 does not work, fluid can build up under and inside the retina, yellowish deposits can form, and vision slowly gets worse, often starting in childhood or the teen years. This disorder was first clearly described in 2008 by researchers including Burgess and Black, which is why the name “Burgess-Black” appears in older sources. Today, doctors usually call it autosomal recessive bestrophinopathy (ARB). Key test clues are a missing “light rise” on the electro-oculogram (EOG) and reduced electroretinogram (ERG) responses. PMC+3PMC+3PubMed+3

Retinopathy, Burgess-Black type is a rare, inherited eye disease where both copies of the BEST1 gene do not work properly. This gene helps the retinal pigment epithelium (RPE)—a support layer behind the retina—control fluid and salts. When BEST1 fails, fluid builds up inside and under the retina, causing blurred or distorted central vision in childhood or adolescence. Many people have “cyst-like” pockets of fluid (cystoid macular changes) and sometimes a bubble of yellowish material under the fovea. On testing, the electro-oculogram light rise is usually absent, and the full-field electroretinogram may be reduced. This condition is also called autosomal-recessive bestrophinopathy (ARB). PubMed+2PMC+2

The BEST1 gene makes bestrophin-1, a calcium-activated chloride channel on the basolateral membrane of RPE cells. This channel helps balance ions and water. When both BEST1 copies are faulty, the RPE cannot pump fluid normally; fluid and waste then collect under/within the retina, causing subretinal/intraretinal fluid, vitelliform-like deposits, and sometimes cystic macular changes and choroidal neovascularization (CNV). Because the RPE cannot respond normally to light, the EOG “light rise” is absent, and the ERG may be reduced. JAMA Network+3PMC+3PMC+3

Autosomal recessive bestrophinopathy is an eye disease that starts in the retinal pigment epithelium (RPE)—the support layer that keeps the light-sensing cells healthy. The BEST1 gene makes a protein (bestrophin-1) that helps the RPE move salts and fluid. When both copies of BEST1 are changed (mutated), the protein does not work well. Fluid and tiny waste materials build up under and within the retina. Over time, this causes blurred central vision, vitelliform-like yellow subretinal deposits, subretinal or intraretinal fluid/cysts, and sometimes narrow drainage angles in the front of the eye that can lead to angle-closure glaucoma. ARB is recognized by its absent light rise on the electro-oculogram (EOG) and often reduced electroretinogram (ERG), together with tell-tale patterns on modern retinal imaging. AAO Journal+3NCBI+3PMC+3

Another names

Doctors and databases use several names for the same condition. You may see:

• Retinopathy, Burgess-Black type (historic/epithet tied to the original description).

• Autosomal recessive bestrophinopathy (ARB) (most common modern name).

• BEST1-related retinopathy (biallelic) or recessive bestrophinopathy (describes the gene and inheritance).
  All of these refer to the same disease entity on the bestrophinopathy spectrum. Orpha+1

Types

ARB sits within the bestrophinopathy spectrum (BEST1 disorders) that also includes Best vitelliform macular dystrophy (BVMD), adult-onset vitelliform dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Within ARB itself, doctors often describe clinical sub-patterns rather than formal subtypes:

1. Childhood-onset ARB with early hyperopia and widespread subretinal deposits;

2. Adult-diagnosed ARB (symptoms may be milder at first, but tests still show the classic EOG abnormality);

3. ARB with narrow angles/angle-closure glaucoma risk due to shallow anterior chamber and short eyes;

4. ARB with prominent cystoid or schisis-like macular changes on OCT;

5. ARB with macular neovascularization (less common but reported).
   These patterns help guide testing and monitoring, but they are all the same genetic disease (biallelic BEST1). Frontiers+4NCBI+4AAO Journal+4

Causes

Important note: The primary cause of ARB is biallelic (both-copy) pathogenic variants in BEST1. The list below explains mechanisms and contributors that flow from, or modify, that root cause. NCBI

1. Biallelic BEST1 mutations (the defining cause of ARB). They stop bestrophin-1 from working in RPE cells. PMC

2. Loss-of-function protein effect—the channel cannot move chloride/calcium normally, so fluid handling fails. PNAS

3. Compound heterozygosity—two different faulty BEST1 changes (one on each copy) combine to cause disease. NCBI

4. Missense/nonsense/splice/frameshift variants—different mutation types disrupt the protein in different ways. NCBI

5. Defective RPE ion transport—disordered salt movement draws fluid into/under the retina. PNAS

6. Impaired phagocytosis support—dysfunctional RPE support promotes lipofuscin-like deposit buildup. AAO Journal

7. Subretinal fluid accumulation—persistent leakage/poor fluid clearance causes cysts and detachment-like spaces. PMC

8. Multifocal vitelliform-like deposits—yellow deposits form across the posterior pole, not only the fovea. AAO Journal

9. Macular edema/microcysts—fluid inside the retina blurs central vision. PMC

10. Hyperopia (farsightedness)—shorter axial length often coexists and changes optics, worsening blur. PMC

11. Shallow anterior chamber—eye anatomy increases the risk of angle closure. AAO Journal

12. Narrow angles/angle-closure glaucoma—elevated eye pressure damages vision if not treated. PMC

13. Reduced/absent EOG light rise—biomarker of RPE dysfunction typical of ARB. PubMed

14. Reduced ERG responses—photoreceptor function may decline over time. PMC

15. RPE irregularity on autofluorescence—patches of high/low signal reflect stress and damage. ScienceDirect

16. Secondary macular neovascularization—abnormal new vessels can form and threaten vision. Frontiers

17. Genetic background modifiers—different BEST1 variants and other genes can shape severity. ScienceDirect

18. Age-related progression—damage builds with time as deposits and fluid persist. AAO Journal

19. Delayed diagnosis—without early imaging and genetic testing, complications can progress. NCBI

20. Misclassification as other macular diseases—if mistaken for BVMD/CSCR/etc., appropriate monitoring for angles and EOG findings may be missed. ScienceDirect

Symptoms

1. Blurred central vision—letters look smudged or faded. Common early complaint. AAO Journal

2. Difficulty reading or recognizing faces—central tasks are hard because the macula is involved. AAO Journal

3. Metamorphopsia (wavy lines)—straight lines bend, especially with macular fluid/cysts. PMC

4. Hyperopia symptoms—eyestrain, need for plus lenses, trouble focusing up close. PMC

5. Glare and light sensitivity—RPE stress reduces light handling. NCBI

6. Worse vision in dim light (less common than in classic rod dystrophies but reported with widespread disease). AAO Journal

7. Reduced color discrimination—colors look washed out with macular dysfunction. NCBI

8. Contrast loss—faint or low-contrast print is hard to see. NCBI

9. Peripheral blur or scotomas if deposits and RPE change spread. AAO Journal

10. Intermittent central “shadow” from subretinal fluid shifting. PMC

11. Headache/eye pain with angle closure (can be acute and severe). PMC

12. Halos around lights during angle-closure pressure spikes. PMC

13. Sudden drop in vision if macular neovascularization or hemorrhage occurs. Frontiers

14. Slow, progressive change over years if fluid and deposits persist. AAO Journal

15. Family awareness—siblings may be affected; parents usually have normal eyes because ARB is recessive. NCBI

Diagnostic tests

A) Physical exam (in-clinic assessment)

1. Best-corrected visual acuity (BCVA): Eye charts measure central vision. ARB often shows reduced acuity that may fluctuate with fluid. AAO Journal

2. Refraction: Identifies hyperopia (farsightedness), common in ARB, guiding proper lenses. PMC

3. Intraocular pressure (IOP): Checks for pressure spikes; narrow angles raise glaucoma risk. PMC

4. Slit-lamp exam & anterior chamber depth: A shallow chamber suggests angle-closure risk; prompts gonioscopy or prophylactic laser when needed. AAO Journal

5. Dilated fundus examination: Doctors look for multifocal yellow subretinal deposits and RPE changes across the posterior pole. AAO Journal

B) Manual/bedside functional tests

6. Amsler grid: Patients check for wavy or missing lines, reflecting macular dysfunction. NCBI

7. Color vision testing (e.g., Ishihara or arrangement tests): Quantifies color loss typical of macular disease. NCBI

8. Contrast sensitivity (e.g., Pelli-Robson): Detects early central dysfunction not captured by standard acuity. NCBI

9. Automated visual fields (perimetry): Maps scotomas and peripheral involvement as disease extends. AAO Journal

10. Gonioscopy (manual angle inspection): Directly confirms narrow angles and helps plan glaucoma prevention/treatment. PMC

C) Laboratory / pathological / genetic

11. Targeted or panel-based genetic testing (BEST1): Confirms biallelic pathogenic variants, settles diagnosis, and supports family counseling. NCBI

12. Segregation testing in relatives: Documents recessive inheritance (parents as carriers; siblings at risk). NCBI

13. Variant classification (ACMG framework) and functional correlation: Helps interpret uncertain variants using phenotype (EOG pattern, imaging). NCBI

D) Electrodiagnostic

14. Electro-oculogram (EOG): Absent or markedly reduced light rise is a hallmark of ARB and supports an RPE channelopathy. PubMed

15. Full-field ERG: Often reduced, reflecting photoreceptor stress or loss in widespread disease. Baseline helps track progression. PMC

E) Imaging

16. Spectral-domain OCT: Shows subretinal fluid, intraretinal cysts/schisis, outer retinal irregularity, and RPE disruption; essential for follow-up. PMC

17. Fundus autofluorescence (FAF): Maps hyper- and hypo-autofluorescent patches that mirror lipofuscin stress and RPE loss—very characteristic in ARB. ScienceDirect

18. Color fundus photography: Documents multifocal yellowish deposits and progression over time. AAO Journal

19. Fluorescein angiography (FA): Helps distinguish fluid patterns and detects macular neovascularization if present. Frontiers

20. OCT angiography (OCTA) (and, selectively, ICG angiography): Non-invasive vessel maps to confirm or rule out neovascular complications; ICG may aid when choroidal changes are suspected. Frontiers

Non-pharmacological treatments (therapies & others)

1. Regular retina specialist follow-up. Scheduled OCT scans, fundus autofluorescence, and clinical exams help track macular fluid and catch CNV early, which is crucial because timely anti-VEGF therapy preserves vision. Genetics-informed counseling is recommended for family planning. Orpha+1

2. Genetic counseling & testing. Confirming biallelic BEST1 variants clarifies the diagnosis, guides family risk, and prevents mislabeling as other macular dystrophies—important because imaging patterns can overlap. PMC

3. Low-vision rehabilitation. If central vision is affected, magnifiers, high-contrast displays, text-to-speech, and orientation/mobility training improve daily function and quality of life even while medical care continues. Orpha

4. Task lighting & contrast optimization. Bright, glare-controlled lighting, large fonts, and bold contrast settings (e.g., high-contrast mode on devices) reduce strain from macular fluid-related blur and metamorphopsia. Orpha

5. Blue-light filtering and glare control. Tinted lenses and anti-glare coatings can lessen photophobia and improve contrast sensitivity where cystoid changes are present, aiding reading and screens. Orpha

6. Amsler grid self-monitoring. Weekly self-checks can detect new distortion or scotomas—warning signs of CNV—prompting urgent evaluation. Early CNV detection improves outcomes. University College London

7. Avoid ocular trauma and eye rubbing. Gentle eye care reduces the chance of exacerbating subretinal fluid or precipitating hemorrhage in eyes at risk of CNV. University College London

8. Manage systemic vascular risks. Controlling hypertension and avoiding smoking may support choroidal-retinal vascular health, which is relevant in diseases prone to CNV and exudation. University College London

9. School and workplace accommodations. Seating near boards/screens, digital magnification, and extended test time help students and workers function despite central blur. Orpha

10. Driving and safety counseling. Regular acuity and field checks determine fitness for driving; timely restriction prevents accidents as macular fluid fluctuates. Orpha

11. Nutritional pattern for eye health. While no diet cures ARB, a Mediterranean-style pattern rich in leafy greens and fish supports overall macular health and aligns with evidence from macular degeneration nutrition research. National Eye Institute

12. Screen ergonomics. Use larger displays, zoom features, and screen readers to compensate for decreased central acuity; this improves productivity and reduces fatigue. Orpha

13. Psychological support. Coping with a genetic retinal disease can be stressful; counseling and peer groups reduce anxiety and improve adherence to follow-up. Orpha

14. Sun protection. UV-blocking eyewear reduces phototoxic stress to the macula and improves comfort outdoors—sensible for chronic maculopathies. Orpha

15. Avoid unnecessary systemic steroids. Steroids can worsen some forms of retinal fluid and raise IOP; they should be used only when clearly indicated for other conditions. Frontiers

16. Optimize sleep and hydration. Good sleep and hydration may minimize daily fluctuation of symptoms and support general ocular surface comfort, improving function. Orpha

17. Family screening by symptom inquiry and exam. Siblings may carry BEST1 variants; early recognition guides expectations and surveillance, even when findings are subtle. PMC

18. Education on medication adherence. If drops like carbonic anhydrase inhibitors are started, consistent dosing and correct technique are essential to maintain macular thickness gains. Frontiers

19. Home vision tech. Handheld OCT isn’t standard, but smartphone-based acuity/contrast apps and home monitoring of distortion can trigger earlier clinic visits for CNV. University College London

20. Clinical trial awareness. Gene-based strategies for inherited retinal diseases are advancing; staying informed via academic centers may provide future options as BEST1 research grows. PMC

---

Drug treatments

Important: No medicine is FDA-approved specifically for ARB. Clinicians treat complications: cystoid macular edema (CME), subretinal fluid, or CNV. Below are commonly used agents, with FDA label citations (for their approved uses/risks), and typical off-label rationales in ARB.

1. Acetazolamide (oral carbonic anhydrase inhibitor). Class: CAI (systemic). Dose/Time: Often 250–500 mg/day divided (individualized), trialed for weeks to months. Purpose/Mechanism: Enhances RPE fluid transport by altering bicarbonate-dependent ion flux, helping dry intraretinal cysts. Side effects: Paresthesias, fatigue, metabolic acidosis, kidney stones, sulfa allergy issues. Evidence: CAIs improve CME in inherited retinal diseases; label documents pharmacology and systemic risks. FDA Access Data+1

2. Methazolamide (oral CAI). Class: CAI. Dose/Time: 50–100 mg BID (as tolerated). Purpose/Mechanism: Similar to acetazolamide with sometimes better tolerance. Side effects: Fatigue, GI upset, metabolic acidosis; avoid in severe renal/hepatic disease. Evidence: CAIs recommended for inherited CME; methazolamide labeling supports safety/pharmacology (acetazolamide label cited where methazolamide label is not readily available). Frontiers+1

3. Dorzolamide 2% (topical CAI). Class: Topical CAI. Dose/Time: 1 drop TID. Purpose/Mechanism: Improves RPE-mediated fluid pumping; may reduce central macular thickness and improve vision in inherited CME. Side effects: Stinging, bitter taste; rare corneal edema in endothelial compromise. Evidence: CAI benefit in inherited CME; FDA label confirms dosing/safety. FDA Access Data+1

4. Brinzolamide 1% (topical CAI). Class: Topical CAI. Dose/Time: 1 drop TID. Purpose/Mechanism: Alternate topical CAI if dorzolamide not tolerated. Side effects: Blurred vision, bitter taste. Evidence: Similar physiologic rationale; FDA label supports ocular use/safety. FDA Access Data

5. Aflibercept (intravitreal anti-VEGF) for CNV. Class: VEGF-trap biologic. Dose/Time: 2 mg intravitreal; monthly loading then q8w schedule per label; in ARB used off-label when CNV is present. Purpose/Mechanism: Stops leakage and bleeding from CNV, stabilizing or improving vision. Side effects: Endophthalmitis risk, transient IOP rise. Evidence: Case series show anti-VEGF benefit in ARB-CNV; label provides dosing/safety. FDA Access Data+1

6. Ranibizumab (intravitreal anti-VEGF; includes Susvimo implant). Class: Anti-VEGF. Dose/Time: 0.5 mg monthly (injections) or implant refills per label; off-label for ARB-CNV. Purpose/Mechanism: Suppresses CNV leakage. Side effects: Endophthalmitis, conjunctival issues with implant. Evidence: Anti-VEGF for CNV in ARB is supported by case reports/series; labels outline risks. FDA Access Data+2FDA Access Data+2

7. Bevacizumab (intravitreal anti-VEGF, off-label ophthalmic). Class: Anti-VEGF (IV-approved oncology drug). Dose/Time: 1.25 mg intravitreal commonly used off-label. Purpose/Mechanism: Reduces CNV leakage. Side effects: Endophthalmitis; systemic label warns of serious adverse events with IV use. Evidence: ARB case series report improvements; label covers systemic safety. FDA Access Data+1

8. Verteporfin photodynamic therapy (PDT) adjunct. Class: Photosensitizer for PDT. Dose/Time: IV verteporfin with non-thermal laser per label; selected off-label cases of non-AMD CNV. Purpose/Mechanism: Vessel-selective occlusion of CNV; may be used alone or with anti-VEGF. Side effects: Photosensitivity reactions. Evidence: Label supports CNV use in AMD/PM/POHS; rationale extends to selected ARB-CNV when judged appropriate. FDA Access Data

9. Topical NSAIDs (e.g., nepafenac). Class: NSAID eye drops. Dose/Time: Once to TID per product; used short courses. Purpose/Mechanism: May modestly reduce inflammatory components of CME; variable benefit. Side effects: Surface irritation, rare corneal issues. Evidence: Reported in ARB case care; labeling for specific NSAIDs details risks. PMC

10. Dexamethasone intravitreal implant (Ozurdex). Class: Corticosteroid. Dose/Time: 0.7 mg biodegradable implant; off-label for inherited CME or inflammatory exacerbations when benefits outweigh risks. Purpose/Mechanism: Reduces retinal inflammation and vascular permeability. Side effects: IOP rise, cataract progression. Evidence: Label outlines indications and safety; clinicians individualize off-label use in refractory edema. FDA Access Data

11. Combination CAI therapy (topical + oral). Class: CAI strategy. Dose/Time: Dorzolamide TID plus low-dose acetazolamide can be trialed under supervision. Purpose/Mechanism: Dual pathway fluid pumping enhancement. Side effects: Additive CAI adverse effects. Evidence: Reviews recommend CAIs first-line for inherited CME. Frontiers

12. Switching among anti-VEGF agents. Class: Therapy strategy. Dose/Time: Sequence bevacizumab → aflibercept or ranibizumab if suboptimal response. Purpose/Mechanism: Different VEGF binding profiles may help persistent CNV. Side effects: As per labels. Evidence: ARB CNV case reports show responsiveness to anti-VEGF overall. PubMed

13. Short oral steroid tapers (selected cases). Class: Corticosteroid. Dose/Time: Brief, low-dose tapers under specialist care. Purpose/Mechanism: May transiently reduce inflammatory edema in unusual scenarios. Side effects: Hyperglycemia, mood changes; avoid chronic use. Evidence: Case-level reports in ARB; risk-benefit must be individualized. PMC

14. Topical steroid pulse (short course). Class: Corticosteroid drops. Dose/Time: Brief course for associated surface inflammation only. Purpose/Mechanism: Not a routine macular therapy; may improve comfort. Side effects: IOP rise, cataract risk. Evidence: General ophthalmic practice principles; not ARB-specific. FDA Access Data

15. IOP-lowering adjuncts when needed. Class: Beta-blockers, alpha-agonists (if steroid used). Dose/Time: Per label. Purpose/Mechanism: Mitigate steroid-induced IOP rise. Side effects: Per agent. Evidence: Based on steroid implant label warnings about IOP. FDA Access Data

16. Topical hyperosmotic agents (rare). Class: Dehydrating drops/ointments. Dose/Time: Short-term. Purpose/Mechanism: Surface symptom relief; not macular therapy. Side effects: Irritation. Evidence: Supportive care only; not ARB-specific. Orpha

17. Antimicrobial prophylaxis (peri-injection). Class: Antisepsis more than drugs (povidone-iodine is standard). Purpose/Mechanism: Reduce endophthalmitis risk with intravitreal therapy. Evidence: Standard retina protocols adjunctive to anti-VEGF use. FDA Access Data

18. Pain control post-procedure. Class: Lubricants/analgesics. Purpose/Mechanism: Comfort after injections or PDT. Evidence: Post-procedural care standards per labels/protocols. FDA Access Data+1

19. Allergy management to CAIs. Class: Switch agents/stop. Purpose/Mechanism: Address sulfonamide-related intolerance to CAIs. Evidence: CAI labels warn about hypersensitivity. FDA Access Data+1

20. IOP monitoring and glaucoma therapy if needed. Class: As indicated. Purpose/Mechanism: Some ARB patients may experience pressure issues—separate from macular disease—needing standard glaucoma care. Evidence: CAI and steroid labels emphasize IOP monitoring. FDA Access Data+1

---

Dietary molecular supplements

Note: Supplements do not treat ARB directly. Evidence is largely from AMD nutrition trials (AREDS/AREDS2) and general ocular health; use under medical guidance—especially avoiding beta-carotene in current/former smokers.

1. AREDS2-style antioxidant blend (vitamin C, E, zinc, copper, lutein, zeaxanthin—no beta-carotene). Typical doses: C 500 mg, E 400 IU, zinc 80 mg (or 25–80 mg variants), copper 2 mg, lutein 10 mg, zeaxanthin 2 mg daily. Function/Mechanism: Antioxidant and macular pigment support; slows AMD progression and is safer than beta-carotene in smokers; for ARB, considered general macular support without disease-specific evidence. National Eye Institute+1

2. Lutein + Zeaxanthin (as individual carotenoids). Dose: 10 mg/2 mg daily. Function/Mechanism: Increase macular pigment, filter blue light, antioxidant effects; favored over beta-carotene in AREDS2 because of lung cancer risk signal with beta-carotene. JAMA Network+1

3. Zinc (with copper). Dose: Often 25–80 mg elemental zinc daily + 2 mg copper. Function/Mechanism: Cofactor in retinal enzymes; benefits shown in AMD formulations; copper prevents deficiency anemia. National Eye Institute

4. Vitamin C. Dose: ~500 mg/day in AREDS formulations. Function/Mechanism: Antioxidant defense for ocular tissues; supportive but not ARB-specific. National Eye Institute

5. Vitamin E. Dose: ~400 IU/day in AREDS formulations. Function/Mechanism: Membrane antioxidant; part of AREDS2 combo. National Eye Institute

6. Omega-3 (DHA/EPA). Dose: ~1 g/day combined (varies). Function/Mechanism: Photoreceptor membrane support; however, AREDS2 showed no added benefit to the core formula; still reasonable as part of diet. PubMed+1

7. Copper. Dose: 2 mg/day with high-dose zinc. Function/Mechanism: Prevents copper-deficiency anemia from zinc. National Eye Institute

8. Multivitamin (general). Dose: Daily per label. Function/Mechanism: Fills dietary gaps; not a therapy for ARB. University of Michigan Health

9. Leafy-green–rich diet (food-first approach). Dose: Diet pattern rather than pill. Function/Mechanism: Natural lutein/zeaxanthin and antioxidants; aligns with AREDS2 insights. National Eye Institute

10. Smoking avoidance with AREDS2 formula choice. Dose: N/A. Function/Mechanism: Avoid beta-carotene due to increased lung cancer risk in former smokers; use lutein/zeaxanthin formulations instead. JAMA Network

---

Immunity-booster / regenerative / stem-cell drugs

Critical caution: There are no FDA-approved regenerative or stem-cell drugs for ARB. Below are agents sometimes discussed around retinal repair/complications, with FDA labels cited for safety context (approved for other eye diseases). Any “regenerative” claims for ARB remain investigational.

1. Aflibercept (anti-VEGF biologic) — Vision-saving for CNV, not regenerative. Dose: 2 mg intravitreal per label scheduling. Function/Mechanism: VEGF sequestration reduces leakage/bleeding; preserves photoreceptors secondarily by stabilizing the macula. FDA Access Data

2. Ranibizumab / Susvimo implant — For CNV control. Dose: Label-directed injections or implant refills. Mechanism: VEGF-A blockade near photoreceptors; functional preservation rather than regeneration. FDA Access Data+1

3. Bevacizumab (off-label intravitreal) — CNV suppression. Dose: ~1.25 mg intravitreal (off-label). Mechanism: VEGF inhibition; oncology label guides systemic safety. FDA Access Data

4. Dexamethasone intravitreal implant (Ozurdex) — Anti-inflammatory edema control. Dose: 0.7 mg implant. Mechanism: Corticosteroid reduces cytokine-driven permeability; not regenerative. FDA Access Data

5. Verteporfin (PDT) — Selective CNV photothrombosis. Dose: Per label protocol with non-thermal red light. Mechanism: Activated photosensitizer generates singlet oxygen to close abnormal vessels; structural preservation rather than regeneration. FDA Access Data

6. Acetazolamide / Dorzolamide (CAIs) — Fluid-resolution support. Dose: As above. Mechanism: Enhances RPE fluid transport; facilitates macular drying and function—supportive, not regenerative. FDA Access Data+1

---

Surgeries / procedures

1. Intravitreal anti-VEGF injections (office procedure). A tiny needle delivers anti-VEGF into the vitreous to stop leakage from CNV. It is done to stabilize or improve vision quickly and to prevent scarring. FDA Access Data

2. Photodynamic therapy (PDT) with verteporfin. An IV dye is activated by a special laser to close abnormal CNV vessels while sparing most surrounding tissue. Used when CNV is present and the retina specialist judges it beneficial alone or as adjunct. FDA Access Data

3. Pars plana vitrectomy (select complications). Surgery to remove vitreous and address traction, hemorrhage, or subretinal complications in unusual ARB cases; done to clear media or stabilize the macula. Orpha

4. Submacular surgery (rare, legacy). Historically used for CNV removal; largely replaced by anti-VEGF because injections are safer and more effective; reserved for exceptional circumstances. FDA Access Data

5. Scleral buckle or RD repair (if retinal detachment occurs). Standard retinal detachment techniques are used if ARB patients develop a detachment, to reattach the retina and preserve vision. Orpha

---

Preventions

1. Don’t smoke; avoid second-hand smoke. Smoking increases vascular risk and is linked to worse retinal outcomes across conditions. National Eye Institute

2. Monitor vision (Amsler) and seek urgent care for new distortion. Early CNV treatment prevents scars. PubMed

3. Keep regular retina visits and imaging. Detects treatable changes early. Orpha

4. Use protective eyewear and avoid eye rubbing. Reduces hemorrhage/irritation risk. University College London

5. Manage blood pressure and overall cardiovascular health. Supports choroidal circulation. University College London

6. Choose AREDS2-style supplements if advised; avoid beta-carotene in smokers. Safety and evidence-based choice. JAMA Network

7. Adopt a Mediterranean-leaning diet rich in greens and fish. Broad macular-health alignment. National Eye Institute

8. Sun/UV and glare protection. Comfort and potential photoprotection. Orpha

9. Adherence to prescribed drops/injections. Prevents rebound edema or CNV recurrence. Frontiers

10. Family awareness and early evaluation. Siblings may carry variants; early counseling helps. PMC

---

When to see doctors (red flags)

Seek urgent retina care for sudden central blur, lines bending (metamorphopsia), new central blind spot, or a drop in reading vision—these can signal CNV or hemorrhage needing prompt anti-VEGF. Also seek care for increasing floaters, flashes, or a curtain over vision, which can indicate retinal tears/detachment. Routine reviews should continue even when vision feels stable because OCT can show fluid changes before symptoms. PubMed+1

---

What to eat and what to avoid

Eat: Leafy greens (spinach, kale) for natural lutein/zeaxanthin; fish (salmon, sardines) for omega-3s; colorful fruits/vegetables for antioxidants; nuts/legumes for vitamin E and minerals; whole grains for general vascular health. These patterns mirror evidence from AREDS/AREDS2-aligned dietary advice, though they do not treat ARB directly. National Eye Institute

Avoid/limit: Smoking, heavy alcohol, ultra-processed high-salt foods (blood-pressure impact), and beta-carotene supplements if you are a current or former smoker (choose lutein/zeaxanthin instead). Always discuss supplements with your clinician to avoid interactions and overdosing. JAMA Network

---

Frequently asked questions (FAQ)

1) Is Burgess-Black retinopathy the same as ARB?
Yes. “Burgess-Black” refers to the team that first described ARB due to two faulty BEST1 genes; the modern name is autosomal-recessive bestrophinopathy. PubMed+1

2) How is ARB diagnosed?
By clinical exam and imaging (OCT, autofluorescence), characteristic EOG/ERG findings, and genetic testing confirming biallelic BEST1 variants. Orpha

3) Does everyone with ARB get CNV?
No, but ARB carries a meaningful risk. CNV causes sudden distortion/vision loss and needs rapid anti-VEGF therapy. University College London

4) Are there FDA-approved drugs for ARB?
No. Treatments target complications (CME/subretinal fluid or CNV), using CAIs, anti-VEGF, or occasionally steroids/PDT—often off-label. Labels are cited for dosing/safety of each medicine. FDA Access Data+1

5) Do CAI drops really help?
CAIs (dorzolamide/brinzolamide) or oral acetazolamide can reduce cystoid fluid in inherited retinal diseases and are often first-line for edema in this setting. Frontiers

6) Are anti-VEGF injections safe for ARB?
They’re standard for CNV across many diseases and have shown benefit in ARB-CNV case series, with standard injection risks like infection and pressure spikes. PubMed+1

7) Will supplements cure ARB?
No. Evidence from AREDS/AREDS2 supports slowing AMD progression, not ARB. Supplements are supportive; discuss with your clinician. National Eye Institute

8) Should smokers avoid beta-carotene?
Yes. Former and current smokers should avoid beta-carotene; lutein/zeaxanthin are preferred. JAMA Network

9) Can children be affected?
Yes. ARB often starts in the first two decades; pediatric retina/genetics teams are helpful. Orpha

10) What tests follow me over time?
OCT, autofluorescence, visual acuity, and sometimes ERG. EOG is often flat at baseline. Orpha

11) Is surgery usually needed?
Most patients are managed with clinic-based injections if CNV develops; surgery is reserved for complications like traction, hemorrhage, or detachment. FDA Access Data

12) Can glasses fix the blur?
Glasses correct refractive error but not macular fluid; low-vision aids and medical treatments address the macular cause. Orpha

13) Are there gene therapies for ARB now?
Not yet. Research is active; check with academic centers for trials as BEST1 biology is well characterized. PMC

14) How often should I be seen?
Your specialist will individualize, but at least every 6–12 months when stable, and immediately if vision changes suggest CNV. University College London

15) Can ARB be confused with other diseases?
Yes. It overlaps with Best disease (dominant), pattern dystrophies, and other maculopathies; genetics clarifies the diagnosis.

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