A rare syndrome revealed by large eyes and high myopia

Clinical case MD PhD

A 4-month-old patient is referred by pediatrician for suspected congenital glaucoma and “large eyes” appearance.

 

PART 1 – CASE PRESENTATION

    Clinical background 

    • Macrosomia detected in the 3rd trimester of pregnancy
    • No known family history
    • Non-consanguineous parents
    A rare syndrome revealed by large eyes and high myopia

    Ophthalmological findings 

    • Megalocornea bilateral DC 12.5 mm (normal <10.5 mm at 6 months)
    • Iridodonesis
    • Lens ectopia (ectopia lentis), clear lens
    • No tearing, no photophobia
    • Refraction under 0.3% atropine: RE: -7.75 D LE: -7.25 D
    • IOP (iCare) : 23mmHg RE, 24 mmHg LE
    • Fundus: C/D ratio 0.1, normal optic disc
    Ophthalmological findings

    General examination: 

    • Height >2 SD: 70 cm at 4 months (average: 60 cm)
    • Facial dysmorphia with loose, redundant facial skin

     

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    Part 2 will reveal the diagnosis and key learning points. Stay tuned.

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Contributors
Eumys
Aurore Aziz-Alessi
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Eumys
Clément Richard
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Eumys
Margaux Ismedon
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