Best Disease: Stages, Tests, Treatment, and Where Integrative Care Fits

In short. Best disease, or Best vitelliform macular dystrophy, is an inherited condition of the macula caused by changes in the BEST1 gene. There is no cure yet, and no medicine, supplement or herb has been shown to slow it. Many people keep good reading vision in at least one eye until middle age or later. The main treatable complication is abnormal new blood vessels under the retina, which respond to anti-VEGF eye injections. A sudden change in vision needs a quick visit, and gene therapy is in early human trials. Integrative care does not change the disease and does not replace your retina specialist or genetic team.

What Best disease is. Best disease is rare. A US county study estimated about 1 in 16,500 to 1 in 21,000 people [1]. A Danish national estimate was lower, about 1.5 in 100,000 [2].

It is caused by a change in one copy of the BEST1 gene, and it is inherited in an autosomal dominant pattern [3]. That means each child of an affected parent has a 1 in 2 chance of inheriting the gene change. The gene makes bestrophin-1, a channel protein in the retinal pigment epithelium (RPE), the support layer under the light-sensing cells.

The same gene change can look very different within one family. Some carriers have normal vision and a normal-looking retina, with only an abnormal electrical test [4]. Symptoms often start in the teens or later, and in a Dutch series the median age at first symptoms was 33 [5].

Symptoms. Many people have none early on, and the condition is found at a routine eye test. When symptoms come, they are usually blurred central vision, distortion, or difficulty reading small print. Both eyes are usually affected, though not always equally [6].

How it is diagnosed. Your eye doctor looks at the macula and takes a few painless tests [7]:

• OCT, a light-based scan, shows the yellow material as a dome-shaped deposit under the retina. It also shows fluid, thinning or scarring.
• Fundus autofluorescence shows the yellow material as a bright patch in early stages and a darker area as it fades.
• EOG (electro-oculogram). This test measures how the eye's electrical potential changes in dark and then light, reported as the Arden ratio [8]. In Best disease the Arden ratio is usually 1.5 or less, while the full-field ERG, which tests the whole retina, is normal [7]. That combination points strongly to Best disease.
• Genetic testing confirms the diagnosis by finding a disease-causing BEST1 change [7].

The stages. The Gass stages describe how the macula looks [7]. Not everyone goes through every stage, and they do not always follow in order.

• Stage 1, previtelliform: the macula looks normal or nearly normal, but the EOG is abnormal.
• Stage 2, vitelliform: a round, yellow "egg yolk" lesion at the centre.
• Stage 3, pseudohypopyon: the yellow material settles to the bottom of the lesion, with a fluid level above it.
• Stage 4, vitelliruptive: the material breaks up, giving a "scrambled egg" look.
• Stage 5, atrophic or fibrotic: thinning of the retina, a scar, or sometimes bleeding.

Outlook. In one review, 75% of people under 40 kept 20/40 vision or better in at least one eye [7]. In the Dutch series, half had dropped below 20/40 by age 55, and very few reached 20/200 [5]. In a 2026 series of 134 people, vision usually fell slowly when there were no new vessels and no glaucoma [9].

Treatments with good evidence

There is no treatment yet that changes the course of Best disease [6]. The care below is still worth having, because it protects vision and helps families plan.

Regular monitoring. OCT checks track changes in the macula, and OCT angiography can pick up new blood vessels [7]. How often depends on your stage and age, so agree a schedule with your retina specialist.

Genetic testing and counselling. A confirmed BEST1 result settles the diagnosis, tells relatives what they can be tested for, and is usually needed to join a trial. Genetic testing now finds the cause in about three quarters of families with inherited retinal disease [11]. A genetic counsellor can explain what the result means for children, brothers and sisters, and family planning.

Glasses, low-vision aids and school support. Up-to-date glasses matter, especially in children. Magnifiers, good lighting, large print and phone or tablet zoom help with reading. A low-vision service can also advise on work, school and driving.

Treatments with some evidence

Anti-VEGF injections for new blood vessels. In a 2026 series, new vessels (choroidal neovascularisation, CNV) formed in 35% of eyes with Best disease, and those eyes had worse vision [9]. In a hospital series of 14 eyes, treated eyes gained more vision than watched eyes, usually after one bevacizumab injection [12]. That study also found many new vessels settled without treatment.

A 2024 review supports anti-VEGF for leaking (exudative) vessels, while quiet, non-leaking vessels are usually watched [7]. The evidence comes from case series, not randomised trials, because the condition is rare.

Gene therapy (trials only). In dogs with BEST1 disease, a gene therapy injected under the retina reversed the lesions [13].

A first human trial, BIRD-1 (NCT07185256), is testing a similar approach in adults with Best disease or autosomal recessive bestrophinopathy [14]. In October 2026 the sponsor reported that all five adults treated improved on at least one vision measure, without serious safety concerns [15]. These are sponsor-reported, very early results and not a treatment you can get outside a trial.

What is not proven

• Acupuncture and herbal medicine. We found no trials of acupuncture, Chinese herbs or Ayurvedic herbs in Best disease. There is no evidence that they slow it, clear the yellow material or prevent new vessels.
• Supplements and "eye vitamins". None has been tested in Best disease. Vitamins used for age-related macular degeneration were not designed for BEST1 disease and have no proven role here.
• "Stem cell" clinics. Paid injections outside approved trials have caused severe, permanent vision loss [16]. Check any trial on ClinicalTrials.gov and with your retina specialist.
• Anything that asks you to skip monitoring or injections. New vessels can bleed and cause a rapid drop in vision [6].

Other conditions that look similar

• Autosomal recessive bestrophinopathy (ARB): caused by changes in both copies of BEST1. It gives wider, often multiple yellow deposits, an absent EOG light rise and a reduced ERG [17]. About half of people with ARB in one series developed angle-closure glaucoma [9].
• Adult-onset vitelliform dystrophy: usually found after 40, with a similar yellow lesion, but the EOG and ERG are typically normal. Only a minority carry a gene change, BEST1 among them [18].
• Pattern dystrophy: a related group that can also produce vitelliform lesions (see pattern dystrophy). For an overview of inherited macular conditions, see macular dystrophy.

Where Netra fits

Netra Eye Institute is an acupuncture and Oriental medicine practice. We do not diagnose or treat Best disease, and we do not replace your retina specialist, genetic counsellor or low-vision team. Our role is adjunctive:

• We check that the basics are in place: a confirmed diagnosis, genetic testing where possible, and an OCT monitoring plan.
• We offer acupuncture and, where appropriate, Chinese herbal medicine within Netra Restoration Therapy (NRT), with the evidence explained before you start. Herbs are reviewed against your medicines and any trial you are in, since many trials restrict other treatments.
• For children and teenagers, we talk with parents and the child's eye doctor first. We do not offer anything that delays an eye check or competes with school vision support.
• We share what we see with your eye doctor. If you report a sudden change in vision or a painful red eye, we send you for care the same day.

NRT is not a treatment for Best disease and does not replace monitoring, anti-VEGF injections for new vessels, or genetic care. If you want to talk through whether integrative care makes sense alongside your treatment, request a consultation.

For clinic staff: ICD-10-CM code

In the FY2027 code set, H35.54 (dystrophies primarily involving the retinal pigment epithelium) lists vitelliform retinal dystrophy, which covers Best disease. H35.50 (unspecified hereditary retinal dystrophy) is less specific. Confirm against the current code set before billing.

Questions people ask

Is there a cure for Best disease?

Not yet. No treatment can stop or undo the gene's effect today [6]. Gene therapy is being tested in an early trial, and new vessels, the main complication, can be treated with injections [14, 12].

What is the treatment for Best disease?

Care is regular OCT checks, glasses and low-vision aids, and genetic counselling for the family. If new blood vessels leak, anti-VEGF injections are used [7]. People who want to try an experimental treatment can ask about trials.

What are the stages of Best disease?

Previtelliform, vitelliform ("egg yolk"), pseudohypopyon, vitelliruptive ("scrambled egg"), and atrophic or fibrotic [7]. Stages can be skipped or appear out of order, and the stage does not always match vision.

What does OCT show in Best disease?

Early on it shows the yellow material as a dome-shaped deposit under the retina. In later stages fluid partly replaces the material, and finally the outer retina thins or scars [7]. OCT angiography can also pick up new vessels.

Why is the EOG test used?

In Best disease the EOG is reduced, usually with an Arden ratio of 1.5 or less, while the full-field ERG is normal [7]. That pattern helps tell it apart from look-alike conditions. The EOG can be abnormal even in a relative whose retina looks normal [4].

Is Best disease the same as vitelliform macular dystrophy?

Yes, Best disease is the classic form, also called Best vitelliform macular dystrophy. "Vitelliform" means egg-yolk-like, and the word is also used for other conditions. Adult-onset vitelliform dystrophy, for example, starts later and usually has a normal EOG [18].

References

1. Dalvin LA, Pulido JS, Marmorstein AD. Vitelliform dystrophies: prevalence in Olmsted County, Minnesota, United States. Ophthalmic Genet. 2017;38(2):143-147.
2. Bitner H, Schatz P, Mizrahi-Meissonnier L, et al. Frequency, genotype, and clinical spectrum of Best vitelliform macular dystrophy: data from a national center in Denmark. Am J Ophthalmol. 2012;154(2):403-412.e4.
3. Petrukhin K, Koisti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998;19(3):241-247.
4. Garza-Garza LA, León-Cachón RBR, Aguirre-Garza M, et al. Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of vitelliform macular dystrophy in a family with incomplete penetrance. Ophthalmic Genet. 2020;41(2):183-188.
5. Booij JC, Boon CJ, van Schooneveld MJ, et al. Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. Ophthalmology. 2010;117(7):1415-1422.
6. Haldrup SB, McClements ME, Cehajic-Kapetanovic J, et al. Gene therapy strategies for the treatment of bestrophinopathies. Int J Mol Sci. 2025;26(19):9421.
7. Bianco L, Arrigo A, Antropoli A, et al. Multimodal imaging in Best vitelliform macular dystrophy: literature review and novel insights. Eur J Ophthalmol. 2024;34(1):39-51.
8. Constable PA, Bach M, Frishman LJ, et al. ISCEV Standard for clinical electro-oculography (2017 update). Doc Ophthalmol. 2017;134(1):1-9.
9. Shi J, Tian L, Sun TY, et al. Bestrophinopathies: clinical characteristics, natural history, and genetic landscape. Ophthalmol Retina. 2026;10(4):452-464.
10. Crowley C, Paterson R, Lamey T, et al. Autosomal recessive bestrophinopathy associated with angle-closure glaucoma. Doc Ophthalmol. 2014;129(1):57-63.
11. Stone EM, Andorf JL, Whitmore SS, et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology. 2017;124(9):1314-1331.
12. Khan KN, Mahroo OA, Islam F, et al. Functional and anatomical outcomes of choroidal neovascularization complicating BEST1-related retinopathy. Retina. 2017;37(7):1360-1370.
13. Guziewicz KE, Cideciyan AV, Beltran WA, et al. BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure. Proc Natl Acad Sci U S A. 2018;115(12):E2839-E2848.
14. Opus Genetics. Opus Genetics provides BEST1 program update with detailed timeline for OPGx-BEST1 results [press release]. 9 July 2026. ClinicalTrials.gov NCT07185256 (BIRD-1).
15. Foundation Fighting Blindness. Early clinical trial results show vision gains in patients with BEST1-related disease. 2 October 2026.
16. Kuriyan AE, Albini TA, Townsend JH, et al. Vision loss after intravitreal injection of autologous "stem cells" for AMD. N Engl J Med. 2017;376(11):1047-1053.
17. Burgess R, Millar ID, Leroy BP, et al. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet. 2008;82(1):19-31.
18. Chowers I, Tiosano L, Audo I, et al. Adult-onset foveomacular vitelliform dystrophy: a fresh perspective. Prog Retin Eye Res. 2015;47:64-85.