Anophthalmia-Plus Syndrome is a very rare multiple congenital anomaly condition in which a baby is born with no eyes (anophthalmia) or very small eyes (severe microphthalmia) plus malformations in other organs. Reported associated findings include cleft lip and/or palate, facial clefts, choanal stenosis/atresia (blocked nasal passages), sacral or other neural tube defects, abdominal wall defects, ear anomalies, and limb differences. APS is described as distinct but overlaps clinically with the broader anophthalmia–microphthalmia (A/M) spectrum. Because very few cases exist, the exact genetic cause of APS is not fully defined yet. Orpha+2Genetic Diseases Center+2
In the broader A/M spectrum, single-gene variants are common—especially in SOX2, and less often OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4/7, GDF3/6, and others. Some children with A/M also have pituitary hypoplasia and hypogonadotropic hypogonadism, feeding difficulties from esophageal atresia, and neurodevelopmental differences. These facts help guide evaluation and management for APS because clinical care is similar. PMC+5NCBI+5PMC+5
Anophthalmia plus syndrome is a rare condition in which a baby is born with no eyes (anophthalmia) or very small, severely under-developed eyes (severe microphthalmia), plus problems in other organs or body systems. Many—though not all—cases are caused by a harmful change (variant) in the SOX2 gene, a master “instruction” gene that guides early development of the eyes, brain, pituitary gland, esophagus (food pipe), and reproductive organs. Because SOX2 controls other genes, a defect can create a wide pattern of findings from head to toe. NCBI+2BioMed Central+2
Historically, doctors used names like “Anophthalmia-Esophageal-Genital (AEG) syndrome” or “anophthalmia/microphthalmia–esophageal atresia (A/MEA) syndrome” for this same picture—eye absence/small eyes with esophageal and genital findings—and today many experts group these together under SOX2 anophthalmia spectrum (often called anophthalmia plus because more than the eyes are involved). MedlinePlus+3PubMed+3Oxford Academic+3
Other names
Doctors and references may use one or more of the following for the same or overlapping disorder:
SOX2 anophthalmia syndrome
Anophthalmia-esophageal-genital (AEG) syndrome
Anophthalmia/microphthalmia–esophageal atresia (A/MEA) syndrome
Anophthalmia plus syndrome (umbrella term used in rare-disease catalogs)
All of these emphasize anophthalmia or severe microphthalmia plus extra-ocular features (esophagus, pituitary, genital, brain). NCBI+2MedlinePlus+2
Types
By eye involvement
Bilateral anophthalmia (no eyes on both sides)
Unilateral anophthalmia (no eye on one side)
Severe bilateral microphthalmia (eyes present but extremely small)
These lie on a continuum; anophthalmia and microphthalmia often arise from the same early developmental disruption. BioMed Central
By syndrome pattern
SOX2-related anophthalmia spectrum (classic “plus” pattern) — eye absence/small eyes with brain/pituitary, esophageal, and genital findings. NCBI+1
Other gene–related anophthalmia-plus phenotypes (less common), where similar multi-organ patterns occur with variants in genes such as OTX2, STRA6, ALDH1A3, BMP4, FOXE3, RAX, PAX6, VSX2/CHX10. These can also cause syndromic anophthalmia or severe microphthalmia. Wiley Online Library+1
By inheritance
Autosomal dominant (often new/de novo) for SOX2 disorder; an affected parent can pass it on with a 50% chance each pregnancy, but most cases arise de novo (new in the child). NCBI
Causes
A “cause” here means a factor that can lead to the anophthalmia-plus pattern or a very similar syndromic anophthalmia/microphthalmia picture.
SOX2 gene variants (loss-of-function, whole-gene deletions, truncating mutations). The most established cause of AEG/anophthalmia-plus; SOX2 directs early eye, brain, pituitary, and foregut development. NCBI+2PubMed+2
OTX2 variants. Homeobox gene important for eye/brain; can produce severe bilateral malformations and syndromic features. Wiley Online Library
STRA6 variants. Retinoic-acid (vitamin A signaling) receptor; biallelic changes cause Matthew-Wood spectrum with anophthalmia-plus. Wiley Online Library
ALDH1A3 variants. Impair retinaldehyde (vitamin A pathway) conversion; linked to microphthalmia/anophthalmia with extra findings. BioMed Central
RAX variants. Eye field transcription factor; severe eye malformations often syndromic. BioMed Central
PAX6 variants. Classic eye development gene; usually aniridia but can contribute to microphthalmia spectrum. BioMed Central
VSX2/CHX10 variants. Retinal progenitor factor; severe microphthalmia with systemic associations in some families. BioMed Central
BMP4 variants. Signaling molecule for early patterning; reported in anophthalmia-plus phenotypes. BioMed Central
FOXE3 variants. Lens/eye development; severe ocular defects sometimes syndromic. BioMed Central
Chromosomal deletions/duplications (esp. 3q26–q27 including SOX2). Can remove SOX2 or disrupt regulation. NCBI
De novo chromosomal translocations involving SOX2 region. Structural change can delete/regulate SOX2. PubMed
Pituitary development pathway defects (secondary to SOX2). Lead to hypopituitarism and growth/puberty issues—part of the “plus.” JCI
Foregut development disruption (secondary to SOX2). Esophageal atresia/tracheoesophageal fistula are hallmark “plus” features. NCBI
Genital development disruption (hypogonadotropic hypogonadism). Cryptorchidism, micropenis, delayed puberty; due to pituitary-gonadal axis effects. NCBI
Brain malformation pathways. Corpus callosum defects, hypothalamic hamartoma, seizures—reflect early brain specification issues. JCI
Retinoic acid signaling imbalance (biology). Explains why vitamin-A pathway genes (STRA6/ALDH1A3) give anophthalmia-plus. BioMed Central
Family history with autosomal dominant transmission of SOX2 disorder. Less common than de novo but documented. NCBI
Mosaicism in a parent (hidden). A parent with low-level variant can have multiple affected children despite looking unaffected. (Inference consistent with SOX2 inheritance patterns described in case series.) NCBI
Broad anophthalmia/microphthalmia gene panel–detectable causes. Modern panels identify multiple rare genes beyond SOX2. fulgentgenetics.com
Unknown genetic cause. Even with testing, some cases remain unsolved; anophthalmia/microphthalmia overall is genetically diverse. BioMed Central
Symptoms and signs
Not every person has all features. Patterns vary even within the same family.
No eyes or very small eyes at birth. Usually obvious on newborn exam; often both eyes are affected. NCBI
Severe vision loss or blindness. With true anophthalmia there is no light perception. MedlinePlus
Esophageal atresia or feeding problems. The food pipe may not connect to the stomach, or there may be a tracheoesophageal fistula—causing choking, drooling, and inability to feed. Orpha
Genital differences. In males: small penis, undescended testes; in females: ovarian or uterine anomalies; in both: delayed puberty. NCBI
Poor growth after birth. Due to pituitary hormone deficiency and feeding issues. NCBI
Low muscle tone (hypotonia). Common in infancy; may affect feeding and motor milestones. NCBI
Developmental delay or learning difficulties. Range from mild to significant. NCBI
Seizures or unusual movements (spasticity/dystonia). Often linked to brain malformations. NCBI
Pituitary hormone problems (hypopituitarism). Can cause low blood sugar, growth failure, and delayed puberty. JCI
Hearing loss (often sensorineural). May be mild to moderate. JCI
Brain structure differences. Such as absent/partial corpus callosum or hypothalamic hamartoma. JCI
Facial differences and clefting. Some rare “anophthalmia-plus” catalogs note cleft lip/palate or facial clefts. Orpha
Breathing troubles in newborn period. Related to TE fistula, aspiration risk, or airway anomalies. Orpha
Feeding and reflux problems beyond surgery. Swallowing discoordination and reflux may persist. Orpha
Behavioral and sleep difficulties. Can be secondary to neurodevelopmental issues and visual impairment (reported across SOX2 spectrum). NCBI
Diagnostic tests
A) Physical examination
Newborn head-to-toe exam focused on eyes. Confirms absent or very small globes and eyelid/ocular adnexa status; helps plan imaging and prosthetic steps. BioMed Central
Feeding/airway assessment. Looks for choking, cyanosis, or excessive drooling that suggest esophageal atresia or TE fistula. Orpha
Genital exam and pubertal staging. Identifies cryptorchidism, micropenis, or Müllerian anomalies to trigger endocrine and imaging work-up. NCBI
Neurologic exam. Tone, reflexes, seizures, and developmental screening guide brain imaging and early therapy. NCBI
Growth and vital signs tracking. Monitors for hypopituitarism (poor growth) and peri-operative risks. JCI
B) “Manual” clinical tests done at the bedside
Light response/menace/visual tracking checks (when eyes present). Simple behavioral observations help judge residual vision if microphthalmia exists. BioMed Central
Oropharyngeal suction and nasogastric pass attempt (by clinicians). Failure to pass into the stomach suggests esophageal atresia. Orpha
Genital palpation (testes position) and stretched penile length (males). Screens for hypogonadotropic hypogonadism effects. NCBI
C) Laboratory & pathological tests
Chromosomal microarray (CMA). Detects deletions/duplications, including 3q26–q27 loss that removes SOX2. NCBI
SOX2 single-gene sequencing + deletion/duplication analysis. First-line molecular test when anophthalmia-plus is suspected. NCBI+1
Syndromic anophthalmia/microphthalmia multigene panel. Captures OTX2, STRA6, ALDH1A3, RAX, VSX2, and others if SOX2 is negative. fulgentgenetics.com+1
Pituitary hormone profile. Basal and, when age-appropriate, stimulation tests for GH, ACTH/cortisol, TSH/FT4, LH/FSH, prolactin. JCI
Metabolic/nutritional labs as indicated. To address growth issues (glucose, electrolytes) and peri-operative nutrition for esophageal repair. Orpha
Pathology from esophageal surgery (when done). Confirms atresia/fistula anatomy and guides postoperative care. Orpha
D) Electrodiagnostic tests
Electroretinography (ERG) (if a small eye is present). Measures retinal function; may be extinguished in severe microphthalmia. BioMed Central
Visual evoked potentials (VEP) (when possible). Checks brain’s response to visual signals; often absent in anophthalmia, reduced in microphthalmia. BioMed Central
Electroencephalography (EEG). Evaluates seizures linked to brain malformations in the SOX2 spectrum. NCBI
E) Imaging tests
Orbital ultrasound or CT. Confirms absence of globe and looks for cysts, optic nerve anomalies, or calcifications; helpful for prosthetic planning. BioMed Central
Brain and pituitary MRI. Looks for pituitary hypoplasia, corpus callosum defects, hypothalamic hamartoma, and other malformations that guide endocrinology and neurology care. JCI
Contrast studies for esophagus (e.g., esophagram) or intra-op endoscopy. Maps atresia/tracheoesophageal fistula before surgery. Orpha
Non-Pharmacological Treatments (therapies & others)
Early socket expansion with clear conformers to stimulate bony orbital and soft-tissue growth; changed progressively by an ocularist. Purpose: promote symmetrical facial growth and prepare for prosthesis. Mechanism: gentle, continuous tissue expansion. JAAPOS+1
Custom ocular prosthesis fitting once adequate volume is achieved. Purpose: cosmesis and lid support. Mechanism: prosthesis occupies socket volume and supports eyelids. NCBI
Serial expander therapy (e.g., hydrogel or staged conformers) in infancy when rapid growth is needed. Purpose: faster soft-tissue expansion. Mechanism: osmotic swelling or staged size increases. PMC
Dermis-fat graft (when volume deficit persists). Purpose: autologous bulk to the socket. Mechanism: living tissue graft integrates and grows with the child. NCBI
Eyelid reconstruction (e.g., ptosis repair, canthoplasty) if lid malposition prevents expansion. Purpose: improve lid function and coverage. Mechanism: surgical repositioning/shortening/lengthening. NCBI
Cleft lip/palate repair on standard craniofacial timelines. Purpose: improve feeding, speech, and growth. Mechanism: surgical closure and alignment. Genetic Diseases Center
Choanal atresia repair if present. Purpose: secure nasal airway. Mechanism: endoscopic opening and stenting. Genetic Diseases Center
Feeding and swallowing therapy (with or without gastrostomy if severe esophageal issues). Purpose: safe nutrition and weight gain. Mechanism: compensatory strategies, texture modification, devices. MedlinePlus
Endocrine evaluation and therapy planning for pituitary hypoplasia/hypogonadism. Purpose: normal growth/puberty and stress response. Mechanism: replace deficient hormones (see meds section). NCBI+1
Developmental and early-intervention services. Purpose: optimize motor, language, and cognitive skills. Mechanism: structured therapy programs from infancy. NCBI
Orientation & mobility training / educational support (for unilateral cases: protect the seeing eye). Purpose: independence and school readiness. Mechanism: skills training, protective eyewear. Cleveland Clinic
Psychological counseling and family support. Purpose: coping, resilience, and adherence. Mechanism: therapy, peer support, social resources. Cleveland Clinic
Genetic counseling for recurrence risk and testing cascade in family. Purpose: informed family planning and surveillance. Mechanism: explain inheritance/testing options. NCBI
Hearing assessment and speech therapy if speech/hearing concerns coexist. Purpose: communication and learning. Mechanism: audiology plus language therapy. Lippincott Journals
Seizure evaluation and neurorehab when neurological signs exist. Purpose: safety and function. Mechanism: EEG, therapy programs. NCBI
Occupational therapy for activities of daily living. Purpose: self-care and fine motor skills. Mechanism: task-specific training. Cleveland Clinic
Social work navigation for devices, transport, benefits, and schooling. Purpose: reduce practical barriers. Mechanism: linkage to services. Cleveland Clinic
Infection prevention in socket care (hygiene education). Purpose: reduce discharge and irritation. Mechanism: cleaning routines and follow-up. NCBI
Protective head/face gear during sports for unilateral cases. Purpose: protect the functioning eye. Mechanism: polycarbonate eyewear/shields. Cleveland Clinic
Care coordinator / case management across specialties. Purpose: organized, on-time care. Mechanism: single point of contact to sync referrals and surgeries. NCBI
Drug Treatments
Important truth up front: there is no drug that regrows an eye. Medicines are used to treat associated problems (e.g., pituitary hormone deficiencies, airway or reflux symptoms, pain, infections, post-op care). Doses are individualized by specialists; always follow local pediatric protocols. NCBI+1
Hydrocortisone (physiologic glucocorticoid replacement)
Class: corticosteroid. Use: adrenal insufficiency from pituitary defects. Purpose: replace cortisol; protect during illness/surgery. Mechanism: activates glucocorticoid receptors to support metabolism and stress response. Side effects: with excess—weight gain, hypertension, hyperglycemia. Oxford AcademicLevothyroxine
Class: thyroid hormone. Use: central hypothyroidism with pituitary hypoplasia. Purpose: normal metabolism and neurodevelopment. Mechanism: T4 replacement → T3 in tissues. Side effects: overtreatment causes tachycardia, irritability, poor weight gain. NCBIDesmopressin (DDAVP)
Class: vasopressin analog. Use: central diabetes insipidus (if present). Purpose: control polyuria/polydipsia. Mechanism: V2-receptor agonist concentrates urine. Side effects: hyponatremia if excess. NCBIRecombinant human growth hormone (somatropin)
Class: peptide hormone. Use: growth hormone deficiency. Purpose: normal linear growth. Mechanism: stimulates IGF-1 axis. Side effects: pseudotumor cerebri (rare), edema, SCFE risk. NCBIPubertal induction hormones (e.g., estradiol in girls, testosterone in boys)
Class: sex steroids. Use: delayed puberty from hypogonadotropic hypogonadism. Purpose: sexual maturation, bone health. Mechanism: replace deficient gonadal steroids. Side effects: acne, mood changes; monitor bone age. NCBIGonadotropins (hCG/FSH) in selected hypogonadism cases later in life
Class: pituitary hormone analogs. Use: fertility induction when appropriate. Purpose: spermatogenesis/ovulation. Mechanism: stimulate gonads directly. Side effects: ovarian hyperstimulation (in females), gynecomastia (in males). NCBIProton-pump inhibitors/H2 blockers (for esophageal atresia repairs or reflux)
Class: acid suppression. Purpose: symptom relief, protect anastomosis. Mechanism: reduce gastric acid. Side effects: diarrhea, rare hypomagnesemia with long use. MedlinePlusAnalgesics (acetaminophen ± cautious opioids post-op)
Class: analgesics. Purpose: post-surgical comfort. Mechanism: central COX inhibition (acetaminophen); opioid receptor agonism (opioids). Side effects: hepatotoxicity risk (APAP overdose), constipation/respiratory depression (opioids). NCBITopical ocular-surface lubricants (for prosthesis/socket comfort)
Class: artificial tears/ointments. Purpose: reduce friction/discharge around conformer/prosthesis. Mechanism: tear film supplement and barrier. Side effects: transient blur; preservative irritation (pick pediatric-friendly options). NCBITopical/short-course systemic antibiotics when clinically indicated
Class: antimicrobials. Purpose: treat true socket or surgical-site infection. Mechanism: pathogen-specific. Side effects: vary by agent; avoid unnecessary use. NCBINasal steroids/saline post-airway surgery (choanal atresia) per ENT
Class: anti-inflammatory / irrigation. Purpose: reduce edema, keep stents clear. Mechanism: local steroid effect; saline cleanses. Side effects: minor epistaxis/irritation. Genetic Diseases CenterAntiepileptic medicines if seizures present
Class: antiseizure drugs. Purpose: seizure control. Mechanism: agent-specific neuronal stabilization. Side effects: agent-specific; monitor cognition and labs. NCBIIron, vitamin D, calcium (deficiency correction only)
Class: supplements. Purpose: correct lab-proven deficits; support growth and bone health. Mechanism: replace lacking nutrients. Side effects: GI upset (iron); hypercalcemia risk if overdosed. Cleveland ClinicInhaled bronchodilators/ICS if comorbid airway reactivity post-ENT issues
Class: respiratory. Purpose: symptom relief. Mechanism: smooth muscle relaxation / anti-inflammatory. Side effects: tremor (SABA), oral thrush (ICS). Cleveland ClinicAntireflux prokinetics (select cases)
Class: motility agents. Purpose: reduce regurgitation in complex esophageal repairs. Mechanism: enhance gastric emptying. Side effects: extrapyramidal effects with some agents—use cautiously. MedlinePlusStool softeners during post-op opioid use
Class: laxatives. Purpose: prevent constipation. Mechanism: soften stool/increase motility. Side effects: cramping/diarrhea if excessive. NCBIEmergency stress-dose steroids education kit (for adrenal insufficiency)
Class: hydrocortisone IM kit. Purpose: life-saving coverage during illness/trauma. Mechanism: temporary high-dose glucocorticoid. Side effects: minimal in emergencies; teach families thoroughly. Oxford AcademicAntiemetics post-op or with reflux
Class: dopamine/serotonin antagonists, etc. Purpose: nausea control. Mechanism: central receptor blockade. Side effects: extrapyramidal effects or QT prolongation—pick child-safe options. NCBIAntibiotic prophylaxis only for specific surgeries per local protocols
Class: antimicrobials. Purpose: reduce surgical site infection risk. Mechanism: peri-op coverage. Side effects: agent-specific; avoid routine overuse. NCBIAllergy meds (antihistamines) for prosthesis-related irritation when allergic
Class: H1 blockers. Purpose: itch/watery discharge control. Mechanism: histamine receptor antagonism. Side effects: drowsiness (1st gen). NCBI
Dietary Molecular Supplements
There is no supplement that can restore an absent eye. Nutrition supports general growth, bone health, and healing after surgeries. Use supplements only to correct proven deficiencies and avoid megadoses. Very high vitamin A in pregnancy is teratogenic, while severe deficiency in pregnancy is also harmful—so balance, not extremes, is the rule. CDC+2NCBI+2
Vitamin D (correct deficiency only): supports bone/mineralization; dosing per pediatrics. Mechanism: improves calcium absorption. Cleveland Clinic
Calcium (if low intake or documented deficit): supports bone health, especially with steroid or endocrine therapies. Mechanism: mineral substrate. Cleveland Clinic
Iron (if iron-deficiency anemia): improves hemoglobin and growth. Mechanism: hemoglobin synthesis. Cleveland Clinic
Iodine (through iodized salt): supports thyroid hormone production. Mechanism: essential micronutrient for T4/T3. Cleveland Clinic
Zinc (deficiency correction): supports wound healing and growth. Mechanism: cofactor in enzymes. Cleveland Clinic
Omega-3 fatty acids (dietary): general cardiometabolic and anti-inflammatory support; no effect on socket development. Mechanism: membrane lipid modulation. Cleveland Clinic
Protein adequacy (whey/food): supports growth and surgical recovery. Mechanism: provides amino acids for tissue repair. Cleveland Clinic
Folate (age-appropriate RDA): for general health; (note: periconceptional folate prevents neural tube defects—not postnatal APS). Mechanism: one-carbon metabolism. BioMed Central
Avoid megadose Vitamin A outside medical advice; in pregnancy it is teratogenic. Mechanism: retinoid pathway dysregulation. NCBI+1
General balanced diet (whole foods; adequate calories): supports normal growth curves and recovery. Mechanism: broad micronutrient sufficiency. Cleveland Clinic
Immunity-booster / Regenerative / Stem-cell Drugs
There are no approved “immunity boosters,” regenerative drugs, or stem-cell medicines that can restore absent eyes or reverse APS. Offering or advertising such treatments to children outside a regulated clinical trial is not evidence-based and may be unsafe or illegal. Current standard care is prosthetic/oculoplastic, endocrine, and supportive; research continues into eye development biology, but no clinical regenerative drug is available for anophthalmia. Safer alternatives include enrollment in legitimate registries or research studies via your tertiary center’s genetics/ophthalmology teams. NCBI+1
Surgeries
Serial socket expansion procedures (office or OR): place progressively larger conformers or expanders in infancy/early childhood to grow soft tissues and stimulate orbital bone; this prepares for a stable prosthesis and symmetric face. JAAPOS+1
Dermis-fat graft (DFG) to the socket: autologous tissue transplanted to increase volume when external expansion is insufficient; adds living volume that can grow with the child. NCBI
Eyelid reconstruction (e.g., canthoplasty/ptosis repair): correct lid malposition to cover and protect the socket, allow prosthesis retention, and improve appearance. NCBI
Cleft lip/palate repair: staged repairs per craniofacial timelines to improve feeding, speech, and facial form. Genetic Diseases Center
Choanal atresia repair: endoscopic opening and stenting to secure nasal breathing, especially critical in neonates. Genetic Diseases Center
Preventions
Avoid isotretinoin and other oral retinoids in pregnancy; follow iPLEDGE-style precautions. NCBI+1
Avoid thalidomide in pregnancy and related analogs. PMC+1
Correct maternal vitamin A deficiency but avoid megadoses; keep intake in the recommended range. PMC
Vaccinate against rubella and manage infections pre-pregnancy as advised. CDC
Avoid solvent/toxin exposure and unnecessary radiation during pregnancy. BioMed Central
Control maternal diabetes and chronic illnesses before conception. CDC
Use folic acid per guidelines before conception and in early pregnancy (prevents neural tube defects; general fetal benefit). BioMed Central
Early prenatal care and anomaly scanning in high-risk pregnancies. BioMed Central
Genetic counseling for families with a history of A/M or known variants. NCBI
Avoid hyperthermia (hot tubs/saunas) early in pregnancy as part of general teratogen caution. Wiley Online Library
When to see doctors
Right away in newborns: noisy breathing or poor breathing through the nose (possible choanal atresia), poor feeding or choking (possible esophageal anomaly), dehydration or very frequent urination (possible central diabetes insipidus), jaundice or fever, seizures, or very low energy. Soon: concerns about growth, delayed milestones, ambiguous or under-developed genitalia, or very small/absent eye(s). Ongoing: regular visits with ophthalmology/oculoplastics, endocrinology, ENT/craniofacial, genetics, and developmental pediatrics. Genetic Diseases Center+1
What to eat & what to avoid
Eat: a balanced, age-appropriate diet with enough calories and protein (dairy/alternatives, legumes, fish/meat/eggs if used, fruits/vegetables, whole grains). Correct documented deficiencies (iron, vitamin D, iodine, calcium) under medical guidance. Avoid: “megadose” vitamins without indication—especially high-dose vitamin A; unregulated “immune boosters” or “stem-cell” products; and extreme/restrictive diets that risk growth failure. For pregnant or planning mothers: avoid isotretinoin/retinoids and thalidomide; keep vitamin A intake within recommendations. Cleveland Clinic+2NCBI+2
Frequently Asked Questions
Is APS the same as SOX2 anophthalmia syndrome?
Not exactly. APS is a rare clinical label for anophthalmia with extra malformations; SOX2-related disorders are a defined genetic cause within the broader A/M spectrum and often include endocrine and neurologic features. Orpha+1Can medicines regrow eyes?
No. Medicines treat associated conditions (e.g., hormones), not the missing eye. Socket growth is achieved with conformers/prosthetics and surgeries. NCBI+1Will the face grow normally without treatment?
Without expansion/prosthesis, orbital and midface growth can be asymmetrical. Early expansion helps guide growth. PMC+1Is APS inherited?
APS itself is poorly defined genetically; however, many A/M cases are due to single-gene variants (e.g., SOX2, OTX2, PAX6, ALDH1A3, etc.). Genetic counseling/testing is recommended. ScienceDirect+1What endocrine problems should we watch for?
Pituitary hypoplasia can cause adrenal, thyroid, growth, water balance, and puberty issues; endocrinology will screen and replace hormones. NCBI+1Can we delay socket expansion until school age?
Early infancy is preferred to guide bony and soft-tissue growth; delays make symmetry harder. PMC+1Are “stem-cell eye drops” or regenerative injections available?
No approved regenerative drugs exist for anophthalmia; avoid unproven clinics. NCBI+1Will a prosthesis move naturally?
With good socket volume and lid support, cosmesis is high; movement is limited compared to a natural eye but often acceptable. NCBICan unilateral APS children live normal lives?
Yes—protect the seeing eye, use school supports, and continue regular checkups. Cleveland ClinicIs pregnancy safe after taking isotretinoin?
Only after appropriate washout and medical clearance; isotretinoin is highly teratogenic during pregnancy. NCBI+1What imaging or tests are typical?
Tailored to the child: MRI brain/pituitary, airway/endoscopy, craniofacial assessment, endocrine labs, genetics panels. NCBIDoes vitamin A help after birth?
No evidence supports vitamin A after birth to change eye development; in pregnancy, both deficiency and excess are harmful—keep within recommended range only. PMC+1How often do conformers need changing?
Frequently in infancy (weeks to months) to keep pace with growth; schedules are individualized by the ocularist/surgeon. JAAPOSWhat about schooling and development?
Early-intervention, mobility training, and educational plans (IEP/504) support optimal outcomes. Cleveland ClinicWhere can families find reliable information?
Tertiary pediatric ophthalmology/genetics centers, GeneReviews (SOX2 disorders), Orphanet, GARD, and national birth-defect resources. NCBI+2Orpha+2
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: September 19, 2025.
