Pashayan–Pruzansky syndrome is a very rare genetic condition. It mainly affects the face and the tear-drainage system. Many people with the syndrome also have differences in the fingers or toes and problems with movement or learning. Doctors first described it in 1973 in a family with several affected members. The family pattern suggested autosomal dominant inheritance. That means a single changed gene copy can be enough to cause the condition, and it can pass from an affected parent to a child. Variable expression means the features can be mild in one person and more severe in another, even in the same family. JAMA Network+2PubMed+2
Classic facial signs described in the first reports include: eyes set a little wider than usual (telecanthus), tear-duct openings that are shifted toward the temples and narrowed (lacrimal puncta displacement and stenosis), blockage of the tear-drainage system (lacrimal obstruction), a bulky, flattened nose, a mask-like facial appearance, a trapezoid-shaped upper lip, sometimes torsion dystonia (a movement disorder), and intellectual disability. Hand and foot differences can be present. JAMA Network+1
Because it is so rare and the gene has not been firmly established, diagnosis relies on careful clinical evaluation of the distinctive pattern of findings, supported by modern genetic testing where possible. PubMed+2ScienceDirect+2
Other names
Blepharonasofacial malformation syndrome (the formal name used in rare-disease databases) orpha.net+1
Pashayan syndrome or Pashayan–Pruzansky syndrome Wikipedia+1
Blepharo-naso-facial syndrome (BNFS) (older literature) JAMA Network
Note: Some papers discuss “Van Maldergem syndrome” as a related or overlapping pattern. Van Maldergem is now recognized as a separate, autosomal recessive condition with different genetics; it should not be conflated with Pashayan–Pruzansky syndrome. Nature
Types
There are no officially accepted subtypes of Pashayan–Pruzansky syndrome. Clinicians sometimes use practical groupings to guide care:
“Classic” blepharo-naso-facial pattern: telecanthus, punctal displacement/stenosis, lacrimal obstruction, bulky nose, mask-like facies, trapezoid upper lip. JAMA Network
Classic pattern with limb findings: the same facial pattern plus finger/toe differences (for example camptodactyly or clinodactyly). This reflects the variable expression reported in families. PubMed
These “types” are descriptive only and reflect how features cluster in real patients rather than distinct genetic forms.
Causes
Established cause
Autosomal dominant genetic change (exact gene unknown): The original family reports, and later confirmations, support a dominant inheritance pattern with variable expression. The exact gene has not been confirmed, which is common in ultra-rare syndromes first defined by clinical features. JAMA Network+1
Factors that influence expression or help explain why people look different (modifiers and mechanisms)
Variable expressivity: The same genetic change can produce milder or more severe features in different people. This is documented in the original and later family reports. JAMA Network+1
Reduced penetrance: Some people who carry the change may show few features or none. This is a known pattern in many dominant syndromes. (General genetics principle applied to this condition.) ScienceDirect
De novo variant in the child: Sometimes the change is new in a child and not present in either parent; this can explain sporadic cases. (General principle used in rare dominant disorders.) PubMed
Germline/parental mosaicism: A parent may carry the change in some egg or sperm cells only; this can cause recurrence in siblings even if the parent seems unaffected. (General genetics principle relevant to dominant conditions.) PubMed
Copy-number variant (small deletion/duplication) missed on older tests: Some structural changes require modern array or sequencing methods to detect. acmg.net
Regulatory-region variant: A change near, not within, a gene can alter its activity; exome/genome sequencing helps find these. PubMed
Epigenetic factors: DNA methylation or chromatin changes can modify gene expression and phenotype. (General mechanism relevant to variable expressivity.) PubMed
Modifier genes: Other genetic variants can soften or intensify features. This is a frequent explanation for intra-family variability. PubMed
Background ancestry effects: Genetic background sometimes shifts how a syndrome looks, which clinicians consider during evaluation. PubMed
Prenatal environmental influences: Maternal illness, certain medications, or severe nutritional issues in pregnancy can affect severity of facial growth but do not cause the syndrome by themselves. (Clinical genetics principle.) PubMed
Postnatal environmental influences: Eye infections, untreated tear-duct blockage, or poor access to care can worsen functional problems but are not the root cause. (Clinical care principle.) orpha.net
Stochastic (random) developmental variation: Small random differences during embryonic development can change how features present. (General developmental biology concept.) PubMed
Age-related change: Some facial features become more obvious or less obvious as a child grows, creating apparent variability. PubMed
Sex-related differences: Males and females can sometimes show features differently in dominant syndromes; this is observed across many craniofacial conditions. PubMed
Undiagnosed overlap/mislabeling with other craniofacial syndromes: Historically, very rare cases may have been grouped with look-alike conditions (e.g., Van Maldergem syndrome), which complicates the literature. PubMed+1
Diagnostic era effect: Older case reports predated modern genetic tools; newer sequencing can refine or split diagnoses. PubMed
Tissue-specific mosaicism in the patient: The change may be present in some tissues and not others, altering which organs show features. (General mechanism relevant to dominant disorders.) PubMed
Chromosomal rearrangements affecting relevant pathways: Rarely, balanced or unbalanced rearrangements can disrupt craniofacial genes; genome sequencing or arrays can detect them. acmg.net
Undiscovered gene(s) in craniofacial/tear-duct development pathways: Because the causal gene is not yet settled, ongoing research and future sequencing may identify it. PubMed
Symptoms and signs
Telecanthus (wide inner eye distance): The space between the inner corners of the eyes looks wider. This is a key facial sign in the original and later reports. JAMA Network+1
Lacrimal puncta displacement and narrowing: The tiny holes that drain tears are pushed outward and are tight. This makes tear drainage hard. PubMed
Tear-duct (nasolacrimal) obstruction: Tears do not drain well, so eyes may water a lot or get infections. JAMA Network
Bulky, flattened nose with broad bridge: The nose looks wide and flat. This gives part of the “mask-like” look. JAMA Network
Mask-like facial appearance: The face looks smooth and less expressive because of the way the midface and eyelids are shaped. JAMA Network
Trapezoid-shaped upper lip: The upper lip has a broad, W-like contour. PubMed
Malformed or low-set ears: The ears can look unusual or be set lower. PubMed
Epicanthal folds: Small skin folds at the inner corners of the eyes can be present. PubMed
Digital differences (hands/feet): Fingers or toes may be bent (camptodactyly), curved (clinodactyly), or webbed. PubMed
Joint laxity: Joints may be more flexible than expected. PubMed
Movement disorder (torsion dystonia or extrapyramidal signs): Some individuals show twisting muscle movements or abnormal postures. JAMA Network
Developmental delay or intellectual disability: Learning and development can be affected, with a wide range of severity. PubMed
Hypoplastic midface (underdeveloped midface): The middle part of the face may be small, changing the profile. orpha.net
Wide mouth with “inverted W” shape: Described in related early reports that compared overlapping cases. PubMed
Recurrent eye irritation or infections: Due to poor tear drainage and exposed eye surface. JAMA Network
Diagnostic tests
A) Physical examination
Dysmorphology exam of face and head: A clinical geneticist or craniofacial specialist carefully measures eye spacing, nasal bridge width, lip shape, and overall facial proportions to recognize the classic pattern. JAMA Network+1
Detailed eye exam (slit-lamp and surface assessment): Looks for punctal position, narrowing, tear film quality, corneal health, and signs of irritation or infection. JAMA Network
Lacrimal system evaluation in clinic: Gentle probing or dye disappearance tests can show whether tears flow normally or are blocked. JAMA Network
Ear, nose, and throat (ENT) exam: Checks ear shape/position and nasal passages, which relate to the “mask-like” and bulky-nose features. orpha.net
Neurologic exam: Screens for dystonia or other movement problems that have been described. PubMed
Musculoskeletal exam of hands/feet: Looks for camptodactyly, clinodactyly, or webbing that may accompany the facial findings. PubMed
B) Manual/bedside tests
Cover–uncover and Hirschberg tests for eye alignment: Simple alignment checks help document any strabismus that may accompany the eyelid/bridge differences. (Standard ophthalmic practice; supportive.) JAMA Network
Punctal compression and irrigation at the clinic: Gentle pressure and saline irrigation help confirm punctal stenosis or tear-duct blockage. JAMA Network
Cranial nerve screening: Assesses facial movement and eye movements, useful when dystonia or facial masking is suspected. (Standard neurologic bedside exam.) PubMed
Functional hand assessment (range of motion and grip): Documents the impact of finger differences on daily use. (Standard orthopedic/rehab approach.) PubMed
C) Laboratory and pathological tests
Chromosomal microarray (CMA): Looks for small deletions/duplications that older tests might miss; recommended in many congenital anomaly evaluations. acmg.net
Whole-exome sequencing (WES): Searches the protein-coding regions for a causative variant; ACMG strongly recommends ES/GS as a first- or second-tier test in individuals with congenital anomalies and/or developmental delay/intellectual disability. PubMed+1
Whole-genome sequencing (WGS): Can detect regulatory variants and some structural changes that exome may miss. Also recommended by ACMG for similar indications. PubMed
Targeted multigene panels for craniofacial/tear-duct development (when available): Panels can be considered if WES/WGS is not available. (Testing strategy aligned with ACMG guidance.) acmg.net
Parental testing (“trio” sequencing): Helps determine if a variant is inherited or de novo, and clarifies recurrence risk. (ACMG diagnostic approach.) PubMed
Basic lab screening when indicated (infection markers, ocular surface cultures): Used if recurrent eye infections from tear-duct obstruction are suspected. (Supportive clinical care.) JAMA Network
D) Electrodiagnostic tests
Electroencephalogram (EEG): Considered if there are spells concerning for seizures in a person with developmental issues; it helps rule in or out comorbid epilepsy. (General neurodiagnostic practice with DD/ID.) AAP Publications
Electromyography (EMG) or movement recording: Sometimes used by neurologists to characterize dystonia or other movement abnormalities to guide therapy. (General movement-disorder practice.) PubMed
E) Imaging tests
Dacryocystography or dacryoscintigraphy (tear-duct imaging): Confirms the site of blockage and helps plan treatment if lacrimal obstruction is significant. JAMA Network
Craniofacial CT or MRI (as clinically indicated): Defines bony and soft-tissue facial anatomy, helps surgeons plan procedures, and documents midface hypoplasia or nasal bridge width. Hand/foot radiographs can document digital differences. orpha.net
Non-pharmacological Treatments (Therapies & Others)
Lacrimal sac massage and eyelid hygiene
Description: Parents gently press and roll a clean finger from the inner corner of the eye downward along the side of the nose, 2–4 times/day, plus warm water cleansing of lashes. Purpose: Encourage opening of a thin membrane at the duct’s end and reduce stagnation that causes discharge. Mechanism: Mechanical pressure increases hydrostatic force within the nasolacrimal system, helping pop open the valve of Hasner as the duct matures; hygiene reduces crusts and bacterial load. Most congenital obstructions resolve by 12 months, so this is first-line. AAO+1Probing of the nasolacrimal duct
Description: A thin metal probe is passed from the punctum through the canaliculus into the duct to open the membranous block, often with irrigation; sometimes performed in-office for young infants or under brief anesthesia for older babies. Purpose: Definitively open persistent obstruction causing tearing/infection. Mechanism: Breaks the membranous barrier; success rates are high in infants/toddlers. Timing balances spontaneous resolution versus declining success after later infancy. AAO Journal+1Silicone intubation (stenting)
Description: Soft silicone tubes are placed temporarily through the tear passages to keep them open after probing. Purpose: Prevent re-obstruction and improve success, particularly after failed primary probing or in complex anatomy. Mechanism: A spacer maintains patency while tissues heal, reducing adhesions. aapos.orgBalloon dacryoplasty
Description: After probing, a tiny balloon catheter is inflated within the duct. Purpose: Widen tight segments when simple probing is not enough. Mechanism: Radial stretch dilates narrow areas and breaks membranous strictures to improve drainage. AAODacryocystorhinostomy (external or endoscopic)
Description: Creation of a new passage between the lacrimal sac and the nose when the duct is chronically blocked and other methods fail (rare in children). Purpose: Bypass obstruction to relieve tearing/infection. Mechanism: A bony window and mucosal anastomosis allow tears to drain directly into the nasal cavity; success is >90% in pediatric series. NCBI+1Congenital ptosis surgery (levator resection or frontalis sling)
Description: Choice depends on levator muscle function. Purpose: Prevent amblyopia, normalize eyelid height and head posture. Mechanism: Levator resection strengthens elevation when function is fair; frontalis sling links lid to brow muscle when levator function is poor (<4 mm). NCBI+1Amblyopia therapy (patching/atropine per ophthalmologist)
Description: If one eye is weaker, patching the stronger eye or using atropine penalization trains the weaker eye. Purpose: Protect vision development. Mechanism: Forces neural pathways from the weaker eye to strengthen during the critical visual period. EyeWikiSpeech-language therapy
Description: Early therapy supports articulation and language, especially if palate, jaw alignment, or hearing issues affect speech. Purpose: Improve communication skills. Mechanism: Structured practice strengthens motor planning and compensatory strategies for craniofacial differences. malacards.orgAudiology assessment & hearing supports
Description: Regular hearing checks; use of hearing aids if needed. Purpose: Support speech and learning. Mechanism: Early amplification prevents sound deprivation at critical developmental periods. malacards.orgOrthodontic and craniofacial dental care
Description: Monitoring bite, jaw growth, and dental alignment. Purpose: Optimize chewing, speech, and facial balance. Mechanism: Guided tooth movement and growth modification reduce functional strain. malacards.orgPhysical/occupational therapy for hand anomalies
Description: Splinting, stretching, and task-based training for bent fingers or lax joints. Purpose: Improve grip and daily function. Mechanism: Joint stabilization and neuro-muscular retraining increase range and control. gamuts.netDevelopmental and educational supports
Description: Early intervention, individualized education plans, and therapies tailored to cognitive profile. Purpose: Maximize learning and independence. Mechanism: Repetition and structured environments improve functional outcomes. NCBIOcular surface care (non-drug): warm compresses & environmental tweaks
Description: Warm compresses, blink breaks, and humidity control. Purpose: Reduce evaporative tearing symptoms and irritation. Mechanism: Heat improves meibomian oil flow; humidification reduces tear evaporation (benefit modest; keep humidifiers clean). PMC+2Frontiers+2Protective eyewear & UV protection
Description: Sunglasses and safety glasses for sports or dusty environments. Purpose: Prevent corneal abrasions and light sensitivity. Mechanism: Physical barrier reduces mechanical and UV stress. EyeWikiNasal hygiene & saline irrigation (age-appropriate)
Description: Isotonic saline sprays/rinses as guided by pediatric ENT. Purpose: Ease nasal obstruction that worsens tearing. Mechanism: Saline thins secretions and improves mucociliary clearance. ScienceDirectGenetic counseling for families
Description: Discussion of inheritance, recurrence risk, and options. Purpose: Informed family planning and early monitoring. Mechanism: Explains autosomal dominant patterns and variable expression. WikipediaPsychosocial support
Description: Counseling and peer support groups for child and parents. Purpose: Reduce stress, support coping, and improve quality of life. Mechanism: Behavioral strategies and social connection buffer chronic-condition stress. malacards.orgNutritional assessment
Description: Routine growth tracking, balanced diet, vitamin A sufficiency (no mega-doses without deficiency). Purpose: Support ocular surface health and development. Mechanism: Adequate vitamin A prevents xerophthalmia; overdose is harmful. AAO JournalRoutine vaccinations
Description: Follow national schedules; no special “immunity booster” drugs are indicated for this syndrome. Purpose: Prevent vaccine-preventable infections. Mechanism: Vaccines train immune memory safely and effectively. CDC+1Regular multidisciplinary follow-up
Description: Coordinated care with pediatrics, ophthalmology, ENT, craniofacial, audiology, therapy services. Purpose: Catch problems early and tailor interventions. Mechanism: Shared plans reduce gaps and duplications in care. malacards.org
Drug Treatments
There are no FDA-approved medicines for “Pashayan–Pruzansky syndrome” itself. Drugs below are commonly used to treat specific problems that can occur with this syndrome (e.g., ocular surface irritation or infected tear sac). Always use pediatric dosing and clinician guidance. Labels are cited from accessdata.fda.gov.
Erythromycin ophthalmic ointment
Class: Macrolide antibiotic (topical ophthalmic)
Dosage/Time: Thin ribbon to affected eye(s) up to 4×/day as directed.
Purpose & Mechanism (150 words): Used short-term for bacterial conjunctivitis or to reduce bacterial load when mucous discharge accompanies nasolacrimal obstruction. Macrolides inhibit bacterial protein synthesis by binding the 50S ribosomal subunit, decreasing bacterial growth on the ocular surface. In infants, ointment spreads well and stays longer on the eye, which is useful at bedtime. It should be used only for proven or strongly suspected bacterial infection to minimize resistance. Common effects include mild eye irritation or redness. Serious allergy is rare but requires urgent care. It does not open the tear duct; it only treats infection or reduces discharge while other measures (massage/probing) address the blockage. Follow clinician instructions and avoid touching the tube tip to lashes to prevent contamination. U.S. Food and Drug AdministrationAmoxicillin–clavulanate (AUGMENTIN) – oral
Class: Aminopenicillin + β-lactamase inhibitor
Dosage/Time: Pediatric dosing by weight; typically q12h with food when treating dacryocystitis or sinusitis per clinician.
Purpose & Mechanism (150 words): For spreading tear-sac infection (dacryocystitis), fever, or cellulitis risk, systemic antibiotics may be needed. Amoxicillin blocks bacterial cell wall synthesis; clavulanate inhibits β-lactamases, broadening coverage against common respiratory and skin pathogens. Taken at meal start to improve absorption and reduce GI upset. Typical side effects are diarrhea, rash, or yeast overgrowth; severe allergy (penicillin hypersensitivity) is a contraindication. Therapy length depends on severity and response. This medicine treats infection; it does not correct the anatomical blockage, so definitive tear-duct procedures may still be required. FDA Access DataAcetaminophen (paracetamol)
Class: Analgesic/antipyretic
Dosage/Time: Weight-based pediatric dosing; avoid exceeding total daily dose.
Purpose & Mechanism (150 words): Used for pain or fever associated with eye procedures (probing, intubation) or infections. Acetaminophen reduces pain and fever centrally, likely via COX enzyme modulation in the CNS, with minimal anti-inflammatory activity. It is preferred for many infants because it is gentle on the stomach compared with NSAIDs. The key safety issue is avoiding overdose—which can injure the liver—by using weight-based dosing and not combining multiple acetaminophen-containing products. It does not treat infection or structural problems; it only improves comfort while definitive therapy proceeds. Consult the label and your clinician for exact dosing intervals and maximum daily dose for the child’s weight. FDA Access Data+1Ibuprofen
Class: NSAID analgesic/anti-inflammatory
Dosage/Time: Weight-based pediatric dosing every 6–8 hours with food; avoid in dehydration or certain medical conditions.
Purpose & Mechanism (150 words): For short-term pain and inflammation after minor procedures or with intercurrent infections, ibuprofen inhibits COX-1/COX-2 enzymes to reduce prostaglandins, easing pain and swelling. In older children (per label age limits), it can be effective for comfort; however, it should not be used in late pregnancy and must be avoided in certain kidney, GI, or cardiovascular risks. As with all NSAIDs, the lowest effective dose for the shortest time is recommended. It does not treat the cause of tearing or blockage but may help recovery comfort after probing or stent placement. Follow pediatric dosing strictly and avoid duplicate NSAIDs. FDA Access Data+2FDA Access Data+2Cyclosporine ophthalmic emulsion (RESTASIS / RESTASIS Multidose)
Class: Topical calcineurin inhibitor (immunomodulator)
Dosage/Time: 1 drop in each eye twice daily (~12 hours apart).
Purpose & Mechanism (150 words): In older children/adolescents with confirmed ocular surface inflammation contributing to low tear production (keratoconjunctivitis sicca), cyclosporine can increase tear production by down-regulating T-cell–mediated inflammation in the lacrimal functional unit. It is not for acute infection and is approved to increase tear production when inflammation suppresses it. Burning on instillation is common. Pediatric use is clinician-directed and off-label for many ages; specialists weigh benefits vs. risks, and it may be considered when conservative measures fail. This does not correct tear-duct anatomy but may improve ocular surface health in selected patients. FDA Access Data+1Lubricant eye drops/ointments (OTC monograph)
Class: Demulcents/lubricants (e.g., carboxymethylcellulose, hypromellose)
Dosage/Time: 1–2 drops every 3–4 hours as needed; ointment at bedtime.
Purpose & Mechanism (150 words): Lubricants protect and hydrate the ocular surface when tear film is unstable or evaporates quickly, reducing irritation and reflex tearing. Demulcents increase tear film thickness and residence time, easing symptoms during dry, windy, or low-humidity conditions. They do not fix nasolacrimal obstruction, but they can make the eye more comfortable while awaiting natural resolution or after procedures. Preservative-free options are preferred with frequent use. Follow product labeling and clinician advice for pediatric use. FDA Access DataTopical antibiotic drops (other classes as indicated)
Class: Fluoroquinolone/sulfonamide/polymyxin combinations (as clinically indicated)
Dosage/Time: Per label for suspected bacterial conjunctivitis.
Purpose & Mechanism (150 words): When clear bacterial conjunctivitis is present, short courses of topical antibiotics may reduce bacterial load and shorten symptoms. Selection depends on age, local resistance, and allergy history. These are not routine for simple tearing without infection and should be targeted to clinical signs. Overuse promotes resistance; clinicians follow guidelines to limit exposure. AAONasal steroid sprays (adjunct in older children with rhinitis)
Class: Topical corticosteroid
Dosage/Time: Once daily (age-appropriate formulations only).
Purpose & Mechanism (150 words): If nasal inflammation worsens tearing by narrowing outflow or causing rhinitis, clinician-directed nasal steroid use can reduce mucosal swelling and improve airflow. This is adjunctive, not core therapy for tear-duct obstruction, and must follow pediatric labeling and ENT/primary-care guidance. ScienceDirectAnalgesia sedation protocols for procedures (anesthesia-guided)
Class: Peri-procedural medications (institutional protocols)
Purpose & Mechanism (150 words): For probing/intubation, safe analgesia and brief anesthesia may be used depending on age and setting. Goals are comfort, immobility, and safety while minimizing exposure time. Teams follow pediatric anesthesia standards. AAO JournalCenegermin-bkbj (OXERVATE) – for neurotrophic keratitis (selected cases)
Class: Recombinant human nerve growth factor (ophthalmic)
Dosage/Time: 1 drop in affected eye(s) 6×/day for 8 weeks (per label).
Purpose & Mechanism (150 words): In rare patients who develop neurotrophic keratitis (reduced corneal nerve function causing non-healing epithelial defects), cenegermin can promote corneal healing by stimulating nerve regeneration and epithelial growth. This is not a treatment for tear-duct blockage or for the syndrome itself, but for a specific ocular surface complication under specialist care. Access, age restrictions, and monitoring follow the FDA label. FDA Access Data+1
Note: Items 1–10 are representative; specific antibiotic choice and dosing depend on age, weight, severity, and local guidance. Some products (e.g., OTC drops) are regulated under FDA monographs; others require prescriptions. The FDA has also warned against certain contaminated OTC eye drops—always confirm products with your clinician. U.S. Food and Drug Administration
Dietary Molecular Supplements
Evidence for supplements in pediatric ocular surface disease is mixed. Use only with clinician guidance, especially in children.
Vitamin A (avoid deficiency; no mega-doses)
Dose: Dietary sufficiency per age (dietitian guided; supplementation only if deficient).
Function/Mechanism (~150 words): Vitamin A maintains ocular surface health and normal epithelial differentiation. True deficiency can cause conjunctival/corneal dryness, keratinization, ulcers, and even perforation; correcting deficiency reverses many changes. Routine high-dose supplementation in well-nourished children is not indicated and can be toxic. A balanced diet (eggs, dairy, orange/green vegetables) usually meets needs; supplements are reserved for medically proven deficiency or malabsorption. AAO Journal+1Omega-3 fatty acids (fish oil; cautious expectations)
Dose: Only if clinician recommends; typical adult trials used ~1 g/day EPA+DHA—pediatric dosing is individualized.
Function/Mechanism: Omega-3s may modulate meibomian gland lipids and ocular surface inflammation. However, large RCTs in adults show no clear benefit for preventing or treating dry eye overall; smaller studies suggest possible benefits in meibomian gland disease. Families should discuss risks/benefits and avoid assuming benefit. New England Journal of Medicine+2JAMA Network+2Adequate dietary protein
Dose: Age-appropriate intake per dietary guidelines.
Function/Mechanism: Protein supports tissue repair after procedures and general growth; deficiency impairs healing. This is achieved through normal diet rather than pills. malacards.orgHydration (water intake)
Dose: Age-appropriate daily fluids.
Function/Mechanism: Proper hydration supports tear volume and mucosal health; dehydration worsens ocular discomfort. bmjophth.bmj.comHumidified environment (device is not a “supplement,” but an environmental “molecular water” add-on)
Dose: Maintain indoor RH ~40–50% with careful cleaning.
Function/Mechanism: Higher ambient humidity reduces tear evaporation and ocular surface stress; benefits are modest and devices must be well maintained to avoid aerosolized pathogens. PMC+1Balanced micronutrients (zinc, B-complex) from food
Dose: From varied diet; supplements only if deficiency.
Function/Mechanism: General epithelial and immune function depend on adequate vitamins/minerals; routine high-dose pills are unnecessary in most children. World Health OrganizationVitamin D sufficiency
Dose: Per pediatric guidelines if deficient.
Function/Mechanism: Systemic health and immune modulation; indirect support for healing and well-being. World Health OrganizationAntioxidant-rich foods (fruits/vegetables)
Dose: Daily servings per age.
Function/Mechanism: Phytonutrients support epithelial defenses against oxidative stress; food-first approach is safest. World Health OrganizationAvoid unnecessary herbal drops
Dose: N/A—avoid.
Function/Mechanism: Some non-regulated eye products may be contaminated or unsafe; follow FDA safety notices. U.S. Food and Drug AdministrationDietary fiber for GI tolerance during antibiotics
Dose: Age-appropriate fiber foods.
Function/Mechanism: Helps reduce antibiotic-associated GI upset; not a replacement for medical care. FDA Access Data
Immunity-booster / Regenerative / Stem-cell” Drugs
Reality check: There are no approved “immunity-booster” or stem-cell drugs for Pashayan–Pruzansky syndrome. Routine childhood vaccination is the proven way to prevent infections; amniotic-fluid eye drops and many biologic “stem” products marketed online are not FDA-approved and should be avoided. Below are six items clarifying what may be used and what should not. CDC+1
Routine vaccines
100 words, dosage/function/mechanism: Follow national schedules. Vaccines train the immune system to recognize pathogens safely, lowering risks from measles, pertussis, influenza, and more. This supports overall health during surgeries and therapy. Dosage and timing follow CDC/WHO tables by age and medical indication. CDC+1Cenegermin-bkbj (OXERVATE) – regenerative for neurotrophic keratitis
100 words: A biologic that promotes corneal nerve/epithelial healing in neurotrophic keratitis—not a general “booster.” Dose: 1 drop 6×/day for 8 weeks per FDA label. Considered only when a corneal nerve problem is diagnosed by a cornea specialist. FDA Access DataAutologous serum tears (AST) – compounded, not FDA-approved
100 words: Some cornea specialists use AST for severe ocular surface disease. These are made from the patient’s own blood (compounded) and are not FDA-approved products; use requires specialist oversight. They may supply growth factors similar to natural tears. Families should discuss access, sterility, and storage. Biologic Eye DropsAmniotic membrane products (warning)
100 words: FDA warns no amniotic-fluid eye drops are approved to treat eye disease; unapproved products pose safety and sterility risks. In-clinic amniotic membrane grafts for corneal healing are regulated medical devices/procedures, but bottled “amniotic drops” sold online should be avoided. U.S. Food and Drug AdministrationTopical cyclosporine (immune modulation, not “booster”)
100 words: For inflammatory dry eye (older children/teens), cyclosporine reduces T-cell activity to increase tear production. It is not a general immune booster, but an immunomodulator used when inflammation suppresses tears. Dose: 1 drop twice daily. Pediatric use is specialist-directed. FDA Access DataHealthy-lifestyle “immune support”
100 words: Sleep, nutrition, vaccines, and hand hygiene are the only safe “immune supports” for children with this syndrome; pills marketed as “immunity boosters” are unnecessary and may interact with medicines. Follow pediatric guidance and immunization schedules. CDC
Surgeries
Nasolacrimal duct probing
Procedure: Pass probe through punctum/canaliculus to open the membranous obstruction; often with irrigation. Why: First surgical step for persistent congenital obstruction causing tearing/recurrent discharge. AAO JournalSilicone intubation
Procedure: Temporary silicone tube placed to stent the duct after probing. Why: Reduce re-blockage, especially after failed probing or complex anatomy. aapos.orgBalloon dacryoplasty
Procedure: Inflatable micro-balloon dilates tight segments. Why: Improve patency when probing alone is insufficient. AAODacryocystorhinostomy (external or endoscopic)
Procedure: Create new passage from lacrimal sac to nasal cavity. Why: For persistent obstruction or recurrent dacryocystitis after less invasive methods; pediatric success >90% in experienced hands. NCBIPtosis correction (levator resection/frontalis sling)
Procedure: Tailored to levator function; sling suspends lid to brow when levator is very weak. Why: Prevent amblyopia and abnormal head posture; improve field of vision. NCBI+1
Preventions
Keep eyelids clean with gentle warm water wipes to reduce crusts and irritation. AAO
Teach hand hygiene and avoid touching/rubbing eyes to lower infection risk. AAO
Use lacrimal massage as instructed during infancy to promote natural duct opening. AAO
Follow vaccine schedules to prevent systemic infections that can worsen recovery. CDC
Maintain indoor humidity and take screen-time breaks to reduce eye surface dryness. PMC
Protect eyes outdoors with sunglasses and during sports with safety glasses. EyeWiki
Seek prompt care for green/yellow discharge, swelling, or fever—signs of infection. AAO
Attend regular eye, ENT, hearing, dental, and therapy checkups to catch issues early. malacards.org
Ensure adequate vitamin A intake through diet (avoid high-dose supplements unless deficient). AAO Journal
Plan procedures with pediatric anesthesia teams experienced in brief eye surgeries. AAO Journal
When to See Doctors
See a pediatric ophthalmologist if tearing and discharge last beyond a few months despite massage, or sooner if there is eyelid swelling, redness, fever, or pain (possible dacryocystitis). See ENT for nasal blockage or snoring that affects breathing. See an eye surgeon quickly if the eyelid severely covers the pupil or if the child tilts the head up to see (risk of amblyopia). Ask for audiology and speech-language checks if speech or hearing seems delayed. Regular craniofacial/dental visits help with jaw and bite. AAO+1
What to Eat and What to Avoid
Eat a balanced diet with fruits, vegetables, dairy/fortified options, and proteins to support growth and healing. World Health Organization
Include vitamin-A–rich foods (carrots, spinach, eggs, dairy) to prevent deficiency. Do not mega-dose. AAO Journal
Drink enough water each day to stay hydrated; dehydration worsens eye discomfort. bmjophth.bmj.com
Prefer whole foods over pills for micronutrients unless a doctor documents deficiency. World Health Organization
Avoid unregulated “eye drops” or “herbal cures” marketed online. U.S. Food and Drug Administration
Limit ultra-processed, very salty snacks that can worsen dryness sensation. bmjophth.bmj.com
For post-procedure comfort, soft foods and good hydration help; follow surgeon’s advice. AAO Journal
If antibiotics are prescribed, pair with fiber-rich foods to reduce stomach upset. FDA Access Data
Avoid smoke exposure (second-hand smoke irritates the ocular surface). bmjophth.bmj.com
Discuss any supplement with the clinician before starting, especially in children. New England Journal of Medicine
Frequently Asked Questions
Is there a cure for the whole syndrome?
No single cure exists. Care targets each issue (tear duct, eyelids, ears, teeth, speech, learning) using a team approach. malacards.orgWill my baby’s tear-duct blockage go away by itself?
Many cases resolve in the first year with massage and hygiene. Persistent cases may need probing. AAODoes antibiotic ointment open the tear duct?
No. It treats infection or discharge. The blockage itself is relieved by probing or related procedures. U.S. Food and Drug AdministrationWhen is probing done?
When tearing and discharge persist beyond infancy or cause infections; timing is individualized. Success is high in toddlers. AAO JournalWhat if probing fails?
Doctors may place a silicone stent or use balloon dilation; rarely, DCR is required. aapos.orgCan ptosis (droopy lid) harm vision?
Yes, it can cause amblyopia or abnormal head posture. Surgery is advised when risk is present. WebEyeAre there safe immune-boosting drugs for this syndrome?
No. Follow routine vaccines; avoid unapproved “stem cell” or “amniotic” eye drops sold online. CDC+1Are omega-3 pills helpful?
Evidence is mixed; large trials show little to no benefit for dry eye overall. Discuss with your doctor before using in children. New England Journal of Medicine+1Do we need genetic testing?
Diagnosis is clinical, but genetic counseling/testing may be discussed to understand inheritance and family planning. WikipediaIs surgery safe for infants?
Probing/intubation are brief procedures done by pediatric eye teams. Risks are low, but every surgery requires informed consent. AAO JournalWill my child need long-term follow-up?
Yes. Regular eye, ENT, audiology, dental, and developmental visits catch issues early. malacards.orgAre OTC eye drops safe?
Use only reputable, preservative-free lubricants and check FDA notices about recalls/contamination. U.S. Food and Drug AdministrationDoes vitamin A help?
Adequate vitamin A intake is essential; treat true deficiency but avoid unnecessary high doses. AAO JournalWhat signs need urgent care?
Fever, eyelid swelling/redness, worsening pain, or tender lump near inner corner of the eye—possible dacryocystitis. AAOWhat outcomes can we expect?
With timely procedures and vision monitoring, tearing and infection usually improve, and vision is protected. Some facial or hand features persist but can be supported by therapies. Ajo
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Last Updated: October 28, 2025.
