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🔗 CustomizeMedical Overview of Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome
Sources citedA rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.
Classification & codes: GARD 0017632 · Orphanet ORPHA:397618 · OMIM 609218 · ICD-10 Q15.8
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
News & Updates
ALYFTREK shows positive Phase 3 results in children ages 2–5
Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.
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3 open trials match this profile
Locations in NC, FL and GA.
Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome Family Conference
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Care & management overview — Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome
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Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome News & Developments
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Recruiting trials
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Treatment & Daily Living
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Companies Developing Treatments
Biopharma companies with registered trials for Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Mental Health Toolkit
Sources citedCoping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome — for patients and caregivers alike.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Certified Centers of Excellence
CFF networkCare centers and specialists for Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome, from Tomeko’s verified provider directory (CMS NPPES).
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Patient & Family Guides
Sources citedAn annual snapshot of Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome research, treatment access and outcomes, written in plain language for patients and families.
Practical starting points and things to plan for in the first year after diagnosis.
Step-by-step guidance, what to expect, and a sample daily routine.
Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome.
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.