Bosma Arrhinia Microphthalmia Syndrome (BAMS) is a very rare genetic condition. Babies are born with a missing or very under-developed nose (this is called “arhinia”). Many also have eye development problems that start before birth. These eye problems can be small eyes (“microphthalmia”) or, less often, no visible eye tissue (“anophthalmia”). Other common eye findings include holes in eye structures (“colobomas”), cloudy lenses (“cataracts”), and blocked tear drainage (“nasolacrimal duct obstruction,” or NLDO). Fewer than 100 people have been described in the medical literature, so doctors learn mostly from individual reports and small series. MedlinePlusEyeWiki
Bosma Arrhinia Microphthalmia Syndrome (BAMS) is a very rare condition present at birth. Babies typically have little or no external nose and eye development differences, most often small eyes (microphthalmia) or, less commonly, absent eyes (anophthalmia). Other eye findings can include coloboma (a gap or missing piece in parts of the eye like the iris, retina, or choroid), early cataract, and blocked tear drainage (nasolacrimal duct obstruction, NLDO). Many children have normal intelligence but need care from multiple specialists. The eye findings vary from child to child. EyeWiki
Most people with BAMS have a change (mutation) in a gene called SMCHD1. This gene helps switch other genes on or off during early face and eye development. In BAMS, new (“de novo”) mutations—often not present in either parent—have been shown to disrupt normal development of the nose and eyes. Scientists think the problem is related to abnormal gene silencing during embryo growth. PubMed+1
Because BAMS is rare, what we know about the eyes comes from careful case descriptions, expert reviews, and clinician experience. That also means each person’s findings can be different. Some have mild issues. Others have severe vision loss. PubMed
Types
Below are the main “types” or categories of eye findings that doctors frequently report in BAMS. I list what each type means in simple terms, how it looks, and the common risks that come with it.
1) Eye size abnormalities
Microphthalmia: The eyeball is smaller than normal. Vision may be reduced. The small eye may also be structurally disorganized inside. This can be in one eye or both eyes. It can bring higher risks of refractive error, retinal problems, or glaucoma. EyeWiki
Anophthalmia: There is no visible eye tissue in the socket. Vision is absent on that side. It can be hard to tell very severe microphthalmia from true anophthalmia without imaging. EyeWiki
2) Tissue “holes” or gaps (colobomas)
Iris coloboma: A keyhole-shaped opening in the colored part of the eye. It can cause glare and light sensitivity.
Lens coloboma: The edge of the lens is not fully formed. This can lead to focusing problems and sometimes lens instability or cataract.
Chorioretinal coloboma: Missing pieces in the back of the eye (retina/choroid). This can reduce vision and raise the risk of retinal detachment or, rarely, new vessel growth (“choroidal neovascularization”).
Eyelid coloboma: A notch in the lid that can expose the cornea and cause dryness or ulcer risk if untreated. EyeWiki
3) Lens problems
Cataract: The lens becomes cloudy early in life. This can blur vision and can cause amblyopia (“lazy eye”) if not managed in time. MedlinePlus
4) Tear drainage problems
Nasolacrimal duct stenosis/obstruction (NLDO): The tear drain is narrow or blocked. Tears spill over the lid (“epiphora”). The tear sac may get infected (dacryocystitis). A bulging tear sac at the inner corner (dacryocystocele) can appear in some cases. EyeWikiPubMed
5) Secondary or associated eye issues
Refractive errors (needing glasses) are common because small or misshapen eyes focus light differently.
Glaucoma, especially angle-closure risk in small eyes, can threaten remaining vision if not watched.
Retinal detachment can happen when there is a large chorioretinal coloboma.
Surface problems like dryness, punctate erosions, or band keratopathy can occur from exposure, tear film changes, or chronic inflammation. EyeWiki
Causes
Think of these as the different reasons—during development and after birth—why people with BAMS can have eye trouble. Some are direct (from the gene change). Others are indirect (from the shape of the face, lids, or tear system).
SMCHD1 mutation with abnormal gene silencing during embryo development disrupts normal eye and nose formation. PubMed
Early eye field growth is reduced, so the eye may not reach normal size (microphthalmia). MedlinePlus
Failure of the embryonic optic fissure to close leads to colobomas in the iris, lens edge, retina, or choroid. MedlinePlus
Lens development is altered, which can cause cataracts or lens coloboma. MedlinePlus
Nasolacrimal drainage structures form abnormally, leaving tear duct narrowing or blockage (NLDO). MedlinePlus
Anophthalmia or very severe microphthalmia can result when ocular tissues fail to form or differentiate. MedlinePlus
Small, crowded anterior segment raises angle-closure glaucoma risk. EyeWiki
Large chorioretinal colobomas weaken the retina’s edges, increasing retinal detachment risk. EyeWiki
Abnormal eyelid development (e.g., lid coloboma) exposes the cornea, causing dryness and surface damage. EyeWiki
Midface and nasal hypoplasia can change eyelid position and tear flow, contributing to exposure and tearing. EyeWiki
Chronic tear stagnation from NLDO promotes recurrent infections (conjunctivitis or dacryocystitis). EyeWiki
Abnormal ocular shape leads to refractive errors (nearsightedness, farsightedness, astigmatism). EyeWiki
Media opacities (cataract or corneal changes) blur images reaching the retina, causing amblyopia risk in children. EyeWiki
Optic nerve and retinal under-development can occur alongside microphthalmia, limiting visual potential. MedlinePlus
Surface inflammation (exposure, tear film instability) can cause punctate erosions and band keratopathy. EyeWiki
Disrupted craniofacial signaling pathways (downstream of SMCHD1) may broadly affect ocular morphogenesis. PubMed
Abnormal olfactory placode development travels with eye/orbit patterning errors, reflecting shared embryonic fields. PubMed
Endocrine (hypogonadotropic) issues do not create BAMS eye defects but can influence bone and tissue growth, indirectly affecting sockets and prosthesis planning. MedlinePlus
Surgical scarring after lacrimal procedures, especially in atypical anatomy, may perpetuate tear problems if not planned carefully. EyeWiki
Dacryocystocele formation in some patients with BAMS further blocks drainage and worsens tearing or infection risk. PubMed
Signs and symptoms to watch for
People with BAMS may have one or many of the following. Not every person will have all of them.
Eyes that look small from birth (one or both).
Missing eye appearance on one side in severe cases.
White or gray pupil reflex in photos (can hint at cataract or large coloboma).
Glare and light sensitivity, especially with iris coloboma.
Constant tearing or watery eyes (epiphora).
Sticky discharge at the inner corner, especially after sleep (suggests NLDO).
Recurrent red eye or swelling over the tear sac (dacryocystitis).
Frequent blinking or eye rubbing from irritation or dryness.
Blurry vision or poor visual attention in infants.
Poor eye contact or lack of tracking in babies, especially with severe microphthalmia/anophthalmia.
Head tilt or unusual gaze behaviors if vision is asymmetric.
Squinting or misalignment (strabismus) in some children with uneven vision.
Pain around the eye or inner corner during infections.
Sudden floaters, flashes, or a curtain over vision (urgent signs of possible retinal detachment in those with coloboma).
Photophobia and glare after cataract forms or with iris defects. EyeWiki
Diagnostic tests
To make this easy, I’ll group the 20 tests into five buckets. The goal is to confirm what structures are present, how well the eye works, and whether the tear system is open. The exact plan is tailored to age, cooperation, and which findings are suspected.
A) Physical exam–based assessments
External inspection of the face and lids
The doctor looks for arhinia or nasal hypoplasia, eyelid position, lid notches, and tear overflow. This visual check guides what to test next. EyeWikiPupil reactions and “red reflex” check
A light is shone to see whether pupils respond and whether a normal red reflex appears. An absent or abnormal red reflex can suggest cataract or a large posterior coloboma.Age-appropriate visual behavior/acuity
In infants, we look for fixation and tracking; in older children and adults, we measure chart acuity. This shows functional vision in each eye.Slit-lamp examination
A microscope view of the front of the eye checks the cornea, iris (for coloboma), lens (for cataract), and surface health (for dryness or erosions). EyeWiki
B) “Manual” clinic tests (hands-on tests)
Fluorescein Dye Disappearance Test (FDDT)
A small drop of fluorescein dye is placed in each eye. After a few minutes, the doctor checks whether dye drained normally. Persistent dye suggests tear duct blockage. It is a quick, useful screening test for NLDO. EyeWikiPubMedNCBILacrimal sac compression (“regurgitation on pressure”)
Gentle pressure over the inner corner can push fluid back through the punctum if the sac is blocked—supporting a diagnosis of dacryocystitis or NLDO.Lacrimal irrigation / probing (office-based)
Saline is gently pushed through the tear duct to test patency. Failure to pass fluid or reflux through the punctum supports obstruction and helps decide next steps.Basic ocular alignment tests (cover-uncover and Hirschberg/Krimsky)
These quick bedside checks look for strabismus that may show up when vision is very different between the two eyes.
C) Lab and pathological studies
Genetic testing focusing on SMCHD1
Single-gene testing or exome panels can confirm a pathogenic SMCHD1 variant in many patients with BAMS, supporting the diagnosis and family counseling. PubMedBroader genetic panels when needed
If eye size is small and SMCHD1 testing is negative, doctors may order a broader “microphthalmia/anophthalmia” panel to rule out other rare genes (case-by-case).Endocrine evaluation (LH, FSH, sex steroids, GnRH axis)
These labs help document the hypogonadotropic hypogonadism that travels with BAMS, even though they are not eye tests; they complete the syndrome picture. MedlinePlusHistopathology from lacrimal surgery when performed
If a dacryocystorhinostomy (DCR) or dacryocystectomy is done, the specimen can show chronic inflammation and scarring typical of long-standing NLDO. EyeWiki
D) Electrodiagnostic tests
Electroretinography (ERG)
Measures how the retina responds to light. Helpful when the eye is small or opaque and we need to estimate residual retinal function.Visual Evoked Potentials (VEP)
Measures the brain’s response to visual signals to estimate pathway function when standard vision testing is hard.Electro-oculography (EOG)
Assesses the retinal pigment epithelium and can aid in complex cases with structural anomalies.
E) Imaging
Magnetic Resonance Imaging (MRI) of brain and orbits
MRI shows the optic nerves, eye sockets, and brain structures, including olfactory bulbs and the pituitary region. It helps distinguish severe microphthalmia from anophthalmia and looks for associated brain anomalies with much less radiation than CT. EyeWikiComputed Tomography (CT) of the craniofacial skeleton
CT outlines bony anatomy—absent nasal bones and sinus changes—and helps surgical planning; radiation risk is weighed carefully, especially in children. EyeWikiOcular ultrasound (B-scan)
Useful when the cornea or lens is opaque or the eye is very small; it helps detect posterior colobomas or retinal detachments without ionizing radiation. EyeWikiOptical Coherence Tomography (OCT)
A light-based scan that maps retinal layers and can show the edge and depth of a coloboma or macular changes with high detail. EyeWikiTargeted lacrimal imaging in complex NLDO
In selected cases with atypical anatomy, surgeons may use dye studies or endoscopic views to map the blocked tear pathway before surgery, especially when a dacryocystocele or severe distortion is suspected. PubMed
Non-pharmacological treatments (therapies & other supports)
(Each item lists: what it is, purpose, and how it helps.)
Early comprehensive eye exams
Purpose: Find problems early. Mechanism: An ophthalmologist checks vision, alignment, front of eye, retina, and pressure; early detection prevents amblyopia (lazy eye) and missed complications. EyeWikiProtective polycarbonate eyewear (full-time for the better-seeing eye)
Purpose: Protect the “good” eye if the other eye sees poorly. Mechanism: Impact-resistant lenses reduce injury risk. EyeWikiAmblyopia therapy: occlusion (patching)
Purpose: Strengthen a weaker eye. Mechanism: Covering the stronger eye forces the brain to use the weaker one during critical visual development. (Atropine penalization drops are a drug alternative; see drug section.) EyeWikiAge-appropriate vision testing (behavioral tests, fixation preferences, Teller acuity cards)
Purpose: Measure vision in infants and toddlers. Mechanism: Structured observation and grating tests assess visual development so the care plan can be adjusted early. MalaCardsGlasses and low-vision optical aids (magnifiers, high-contrast lighting)
Purpose: Maximize remaining vision. Mechanism: Correct refractive error, enlarge print, boost contrast, and improve functional seeing. EyeWikiProsthetic/tinted contact lenses for iris coloboma
Purpose: Reduce light sensitivity and glare; improve cosmetic appearance. Mechanism: A painted or iris-occluding soft lens narrows the effective pupil and blocks stray light. PentaVisionEnvolve VisionScleral or custom large-diameter lenses (when the surface allows)
Purpose: Soothe severe dryness and irregular surface. Mechanism: A fluid reservoir under the lens bathes the cornea and smooths optics. (Used case-by-case depending on eye size/anatomy.) PentaVisionLacrimal sac (Crigler) massage and eyelid hygiene for NLDO
Purpose: Help open a partly blocked tear duct; prevent infection. Mechanism: Gentle downward strokes push fluid through the duct; lid scrubs reduce crusting. Persistent cases move to probing (see surgeries). EyeWikiHumidifiers and moisture-chamber goggles
Purpose: Reduce evaporation in dry environments. Mechanism: Traps humidity near the eyes to ease dry-eye symptoms. (Adjunct to lubricants.) FrontiersSerial conformers for small or absent eyes
Purpose: Expand the eye socket in infants/children to allow a future prosthesis and more symmetric facial growth. Mechanism: Gradually larger conformers gently stretch eyelids and socket tissues. PubMed名刺ドットコムLow-vision rehabilitation & orientation/mobility training
Purpose: Teach daily-living and navigation strategies. Mechanism: Specialists train children and families in contrast use, large print, tactile cues, and safe mobility. EyeWikiEducational accommodations (early intervention & school IEP/504)
Purpose: Support learning. Mechanism: Seating, enlarged materials, assistive tech, and teacher awareness protect development when vision is limited. MalaCardsSun/UV protection
Purpose: Reduce glare/photophobia and UV damage. Mechanism: Hats, broad-brim caps, and UV-blocking lenses lower light scatter in coloboma/anisocoria. EyeWikiLid taping or moisture shields during sleep (selected cases)
Purpose: Prevent corneal drying if eyelids don’t fully close. Mechanism: Keeps the surface covered to avoid exposure keratopathy. (Use gently and under clinician guidance.) PMCDevelopmental therapy (OT/PT/Speech as needed)
Purpose: Support overall milestones that vision affects (hand-eye coordination, feeding). Mechanism: Structured exercises and compensations. PMCNutritional counseling for eye health
Purpose: Encourage eye-supportive diet (leafy greens, eggs, fish, colorful fruits/veg). Mechanism: Provides antioxidants and carotenoids for macular pigment; supports ocular surface. PMCFamily genetic counseling
Purpose: Discuss testing and recurrence risk. Mechanism: SMCHD1 and broader MAC panels help confirm diagnosis and guide family planning. MedlinePlusPreventionGeneticsRegular fundus monitoring in coloboma
Purpose: Catch and treat complications fast. Mechanism: Dilated exams look for retinal detachment or choroidal neovascularization. Teach warning signs (flashes/floaters/sudden blur). PMCArtificial tears routines (non-drug habit component)
Purpose: Build consistent lubrication habits. Mechanism: Scheduled instillation, blink breaks, and environmental tweaks keep the surface wet. (Specific drops in drug section.) PMCMultidisciplinary care plan (ENT, endocrine, plastics, ophthalmology)
Purpose: Coordinate complex needs in BAMS. Mechanism: Team plans breathing/feeding, hormones, facial structure, and eyes together for best outcomes. EyeWiki
Drug treatments
Important: There is no pill or drop that “cures” BAMS. Medicines target specific eye problems (dry eye, infection, amblyopia penalization, glaucoma, etc.). Doses below are typical starting points—always follow a pediatric ophthalmologist’s directions.
Preservative-free artificial tears (e.g., carboxymethylcellulose 0.5%)
Dose/Time: 1 drop 4–6×/day (or as needed).
Purpose: Lubrication for dryness/irritation.
Mechanism: Replaces tear volume; reduces friction and micro-damage on the cornea.
Side effects: Brief blur or stinging. (PF preferred in frequent use/children.) PMCLubricating ointment (petrolatum/mineral oil)
Dose/Time: ¼-inch ribbon at bedtime.
Purpose: Overnight protection if lids don’t close fully.
Mechanism: Thick barrier slows evaporation.
Side effects: Temporary morning blur. PMCCyclosporine ophthalmic emulsion 0.05% (calcineurin inhibitor)
Dose/Time: 1 drop BID; benefits after 4–12 weeks.
Purpose: Chronic inflammatory dry eye unresponsive to tears alone.
Mechanism: T-cell down-regulation improves tear quality and goblet cell health.
Side effects: Burning/sting; rare redness. Dr.OracleLifitegrast 5% (LFA-1 antagonist)
Dose/Time: 1 drop BID.
Purpose: Inflammatory dry eye signs/symptoms.
Mechanism: Blocks LFA-1/ICAM-1 interaction, reducing T-cell–mediated inflammation.
Side effects: Dysgeusia (odd taste), irritation. ClinicalTrials.govErythromycin 0.5% ophthalmic ointment
Dose/Time: QHS for lid hygiene, or QID for mild bacterial conjunctivitis/blepharitis.
Purpose: Control bacterial load in sticky lids/NLDO flares.
Mechanism: Macrolide antibiotic inhibits protein synthesis.
Side effects: Mild irritation; rare allergy. PMCMoxifloxacin 0.5% drops
Dose/Time: QID for 7 days in bacterial conjunctivitis or after probing (per clinician).
Purpose: Broad antimicrobial coverage when needed.
Mechanism: Fluoroquinolone inhibits DNA gyrase/topoisomerase.
Side effects: Bitter taste, irritation; stewardship to prevent resistance. MedscapeAtropine 1% penalization (for amblyopia, the non-drug alternative is patching)
Dose/Time: Weekend-only (1 drop/day in the better eye on 2 consecutive days weekly) is effective; some use daily dosing.
Purpose: Blur the better eye to stimulate the weaker eye.
Mechanism: Cycloplegia and pupil dilation reduce accommodation/clarity in the better eye.
Side effects: Light sensitivity, near blur; rare systemic anticholinergic effects—use punctal occlusion. PMCAAP PublicationsTimolol 0.25–0.5% (beta-blocker) for glaucoma risk in small eyes
Dose/Time: Typically BID (solution) or QD (gel) per response.
Purpose: Lower intraocular pressure if glaucoma develops.
Mechanism: Reduces aqueous humor production.
Side effects: Can slow heart rate or trigger bronchospasm—use with great caution in infants/children; check contraindications. NCBIFDA Access DataPMCAntihistamine/mast-cell stabilizer drops (e.g., olopatadine)
Dose/Time: Once or twice daily in allergy seasons.
Purpose: Itch/redness relief that can worsen surface disease.
Mechanism: Blocks histamine and stabilizes mast cells.
Side effects: Mild sting, dryness. (Brand-specific dosing.) FDA Access DataHypertonic saline 5% drops/ointment
Dose/Time: Drops QID; ointment QHS for corneal swelling (if present).
Purpose: Draw fluid out of a water-logged cornea.
Mechanism: Osmotic gradient reduces epithelial edema and blur.
Side effects: Stinging on instillation. Medscape
Note on omega-3 capsules for dry eye: Large RCT (DREAM) did not show benefit versus placebo; opinions are mixed. Food sources are reasonable; supplements should be discussed with your clinician. New England Journal of Medicine
Dietary molecular supplements
Supplements do not fix the structural causes of BAMS, but some can support the ocular surface or retina. Doses below are common adult ranges; pediatric dosing must be clinician-directed.
Lutein (10 mg/day) + Zeaxanthin (2 mg/day)
Function/Mechanism: Increases macular pigment; filters blue light; antioxidant. Evidence: Improves macular pigment and may support visual function. PMCVitamin A (diet-first; supplement only for deficiency under medical care)
Function/Mechanism: Essential for corneal surface and night vision (rhodopsin cycle). Caution: Excess can be toxic; high doses in pregnancy can harm the fetus. Evidence: WHO guidance for deficiency/xerophthalmia. World Health Organization+1Omega-3 fatty acids (EPA/DHA ~1,000 mg/day)
Function/Mechanism: Anti-inflammatory lipid mediators that may improve meibum and tear stability. Evidence: Mixed; DREAM RCT negative—use food sources if possible. New England Journal of MedicineZinc (8–11 mg/day adults; with food)
Function/Mechanism: Works with vitamin A in photoreceptor function and retinoid transport; enzyme cofactor. Evidence: Interacts with vitamin A pathways; some AMD data. PMCPubMedVitamin D (1,000–2,000 IU/day if low)
Function/Mechanism: Immune modulation; deficiency correlates with some surface complaints; correct deficiency per labs. (General evidence; consult clinician.)N-acetylcysteine (NAC) 600 mg/day
Function/Mechanism: Antioxidant and mucolytic—can thin mucus and reduce oxidative stress on the ocular surface (topical NAC also studied). PubMedCurcumin 500–1,000 mg/day with fat/pepper for absorption
Function/Mechanism: Anti-inflammatory/antioxidant; may help ocular surface homeostasis in small studies. PMCMDPITaurine 500–1,000 mg/day
Function/Mechanism: Retinal neuroprotection and anti-oxidative support shown in preclinical/early clinical literature. PMC+1Coenzyme Q10 (100–200 mg/day)
Function/Mechanism: Mitochondrial antioxidant; studied for neuroretinal protection. PMCPubMedBilberry/anthocyanins (standardized extract, ~80–160 mg 1–2×/day)
Function/Mechanism: Antioxidant flavonoids; may aid dark adaptation and microcirculation. (Supportive evidence; not disease-specific.)
Always check drug–supplement interactions and age-appropriate dosing with your pediatric ophthalmologist or pediatrician.
Regenerative / immune-modulating / stem-cell
Reality check: There are no approved “stem cell drugs” for BAMS itself. But some regenerative biologic therapies can help specific ocular surface problems. Most are adjuncts and not cures. Several are off-label or investigational—your specialist will guide appropriateness:
Autologous Serum Eye Drops (ASEDs) 20–50%
Dose: Often QID (per protocol).
Function/Mechanism: Patient’s own serum contains growth factors (EGF, vitamin A, albumin) that promote corneal epithelial healing and reduce symptoms in severe dry eye. Evidence: Reviews and trials suggest benefit; higher concentrations (50%) may help severe disease. PMCPubMedFrontiersPlatelet-Rich Plasma (PRP) eye drops (100% or diluted)
Dose: Protocol-based (e.g., QID–6×/day).
Function/Mechanism: Concentrated platelets release growth factors (PDGF, TGF-β, VEGF) that support surface repair. Evidence: Network meta-analyses and trials show improvements in staining/symptoms vs artificial tears. PubMedFrontiersBMJ OphthalmologyAmniotic membrane–derived eye drops (AMED/AMEED, investigational)
Dose: Protocol-based; typically several times daily.
Function/Mechanism: Amniotic factors may accelerate epithelial healing and reduce inflammation. Evidence: Early studies and reviews show potential; still emerging. PubMed+1ClinicalTrials.govLimbal stem cell transplantation (SLET/CLET/KLAL)
Use: Only if limbal stem cell deficiency exists (not routine in BAMS).
Mechanism: Replaces missing corneal stem cells to restore surface. Evidence: Meta-analyses and reviews support effectiveness in selected cases. JAMA NetworkLippincott JournalsPMCCenegermin (recombinant human nerve growth factor, 0.002%)
Dose: 1 drop 6×/day for 8 weeks (FDA-approved for neurotrophic keratitis).
Mechanism: Promotes corneal nerve and epithelial healing. Use in BAMS: Only if neurotrophic keratopathy is diagnosed. NCBIOXERVATE® (cenegermin-bkbj)Umbilical cord serum eye drops (investigational/compassionate)
Mechanism: Like ASEDs but from donor cord serum—rich in growth factors. Evidence: Included in comparative analyses; still specialized access. Frontiers
Surgeries
Serial socket expansion & ocular prosthesis (for micro/anophthalmia)
Procedure: Start with small conformers in infancy, swapping to larger ones to grow the socket; later, fit a custom prosthesis.
Why: Promotes symmetric facial growth, eyelid shaping, and allows reasonable cosmesis and prosthesis wear. PubMed名刺ドットコムPtosis repair (frontalis sling)
Procedure: A sling links the eyelid to the eyebrow/frontalis muscle when levator function is poor.
Why: Lifts a droopy lid to clear the visual axis and prevent amblyopia; also improves appearance. EyeWikiPMCStrabismus surgery
Procedure: Eye-muscle repositioning to straighten eyes.
Why: Improves alignment, can support binocularity and appearance; often timed after refractive correction/amblyopia therapy. Early surgery can help in selected infantile esotropia. AAO+1Nasolacrimal procedures (probing/intubation; DCR with Jones tube in complex anatomy)
Procedure: If NLDO persists after 6–12 months, probing with possible stent. In BAMS, distorted anatomy may require dacryocystorhinostomy (DCR) and Jones glass tube.
Why: Opens drainage to stop tearing/infection when massage/lubricants fail. EyeWikiCataract extraction (with or without IOL) & selective iris repair
Procedure: Remove visually significant lens opacity; consider zonular weakness if coloboma.
Why: Clear the visual axis to prevent/limit amblyopia; cosmetic iris procedures are case-by-case. EyeWiki
Coloboma watch: Posterior colobomas raise retinal detachment risk; urgent retina care if flashes, floaters, curtain, or sudden blur occur. PMCEyeWiki
Prevention & day-to-day protection tips
Never skip early and regular pediatric eye visits. AAO Journal
Full-time protective eyewear for the better-seeing eye. EyeWiki
Manage dryness proactively (humidifier, blink breaks, scheduled tears). PMC
Teach “retina danger” symptoms (flashes/floaters/curtain) and seek care fast in coloboma. PMC
Treat NLDO early (massage, hygiene; escalate to probing if persistent). EyeWiki
Sun/UV and glare control (hats, UV shades). EyeWiki
Healthy diet rich in leafy greens, colorful veg, eggs, fish, nuts/seeds. PMC
Avoid secondhand smoke (irritates surface; increases infections).
Age-appropriate safety practices (sports goggles, safe play).
Multidisciplinary follow-up (ENT/endocrine/plastics/ophthalmology). EyeWiki
When to see a doctor
Urgent (same day): Sudden new floaters/flashes/“curtain” over vision; red, painful eye with light sensitivity; rapid swelling/discharge with fever; injury; or any sudden vision drop. (Detachment/infection concerns.) PMC
Prompt (days): Persistent tearing/discharge (possible NLDO infection), new eye turn (strabismus), worsening glare/photophobia, or not tracking faces/toys on schedule. EyeWiki
Routine: Newborn/infant baseline, then as your pediatric ophthalmologist advises (often every few months in early years), plus extra checks for coloboma or small eyes. AAO Journal
What to eat” & “what to avoid”
Eat leafy greens (spinach/kale) → lutein/zeaxanthin for macular pigment. PMC
Eat eggs → highly bioavailable lutein/zeaxanthin. PMC
Eat oily fish (salmon/sardines) 2×/week → omega-3s for meibum/tears. (Food > pills) New England Journal of Medicine
Eat colorful fruits/veg (carrots/sweet potato, peppers, berries) → carotenoids & vitamin C/E. PMC
Eat nuts/seeds → vitamin E and supportive fats. PMC
Avoid ultra-processed, high-sugar snacks → can worsen inflammation.
Avoid smoking/secondhand smoke → irritates surface; infection risk.
Avoid very high dose vitamin A without medical guidance → toxicity risk. World Health Organization
Avoid poor hydration → worsens dryness; encourage water intake.
Avoid contact lens over-wear/poor hygiene if lenses are used → infection risk.
Frequently asked questions (FAQ)
1) Can eye problems in BAMS be “cured”?
Not the structural differences themselves. Care focuses on protecting vision, treating symptoms, and preventing complications (amblyopia, infections, retinal detachment). EyeWiki
2) Is SMCHD1 always abnormal?
Often, yes—SMCHD1 changes are strongly linked to BAMS—but not every child will have an identified variant yet. Genetics is evolving. MedlinePlusPMC
3) Will my child need surgery?
Sometimes. Common reasons: socket expansion/prosthesis, ptosis repair, tear-duct surgery, strabismus correction, or cataract removal. Timing is individualized. PubMedEyeWiki+1
4) What is coloboma and why is it serious?
It’s a “missing piece” of eye tissue. If the back of the eye is involved, there’s a higher risk of retinal detachment. Urgent care if sudden flashes/floaters/curtain appear. PMC
5) Can glasses help?
Yes. Glasses correct refractive error and are vital in amblyopia prevention and visual development. AAO Journal
6) Are prosthetic/tinted contacts safe for kids with iris coloboma?
When properly fitted and cleaned, they can reduce glare and improve appearance. Fitting by an experienced provider is essential. PentaVision
7) What about stem-cell therapy?
True stem-cell cures for BAMS do not exist. Limbal stem cell transplants help only if corneal stem cells are deficient; they are not routine for BAMS. JAMA Network
8) Are “immune booster” pills helpful?
There are no proven “immunity boosters” for BAMS eyes. A balanced diet, sleep, and vaccinations matter; some anti-inflammatory ocular drops (e.g., cyclosporine, lifitegrast) help dry eye inflammation but do not change anatomy. Dr.OracleClinicalTrials.gov
9) Do omega-3 capsules fix dry eye?
Evidence is mixed. A large trial did not show clear benefit over placebo; food sources (fish, seeds) are reasonable. New England Journal of Medicine
10) How often are eye checkups needed?
Very frequently in infancy and early childhood (often every few months), then per ophthalmologist advice, especially if coloboma or small eyes are present. AAO Journal
11) Will strabismus surgery give normal binocular vision?
Surgery improves alignment and appearance and may support binocularity, but outcomes vary with each child’s anatomy and vision history. AAO
12) Is there a gene therapy for BAMS?
No. Some eye gene therapies exist for other conditions (e.g., RPE65), but none for SMCHD1/BAMS at this time. MedlinePlus
13) What should I do for constant tearing and discharge?
Learn massage and hygiene techniques; if symptoms persist past 6–12 months, probing or stenting may be recommended; complex cases may need DCR with a Jones tube. EyeWiki
14) Could glaucoma develop in small eyes?
Yes, angle-closure risk exists in small crowded eyes. Monitoring and, if needed, pressure-lowering drops or procedures are used under specialist care. EyeWiki
15) What is our long-term outlook?
With early, coordinated care, many children achieve good developmental outcomes and quality of life, even when vision is limited in one or both eyes. EyeWiki
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: August 16, 2025.
