Abnormal Eyes



Abnormal Eyes


Roya Sohaey, MD



DIFFERENTIAL DIAGNOSIS


Common



  • Hypotelorism


  • Hypertelorism


Less Common



  • Proptosis


  • Dacrocystocele


Rare but Important



  • Orbital Tumors


  • Anophthalmia/Microphthalmia


ESSENTIAL INFORMATION


Key Differential Diagnosis Issues



  • Consider routine imaging of fetal orbits



    • Axial view at level of eyes



      • Evaluate bony orbit and globes


    • Coronal face view with 3D ultrasound


  • Orbital biometry



    • Binocular diameter (BOD)



      • Outer to outer margin of both orbits


    • Interocular diameter (IOD)



      • Inner to inner margin between orbits


    • Ocular diameter (OD)



      • Single bony orbit diameter


  • Rule of “thirds” for normal biometry



    • Normal IOD = OD



      • A “third eye” should fit between orbits


  • Orbital nomograms are available



    • Gestational age vs. OD, IOD, BOD values


    • IOD/BOD percentiles


  • “Face predicts the brain”



    • Look carefully for brain anomalies


    • Look for other face anomalies, including subtle findings such as lack of vermillion border


Helpful Clues for Common Diagnoses



  • Hypotelorism



    • Eyes too close together



      • ↓ IOD, ↓ BOD


    • Hypotelorism is rarely an isolated finding



      • Holoprosencephaly is a major association


    • Associated nose anomalies



      • Proboscis (tube-like nose)


      • Nose with single nostril


      • Superior displacement of nose or proboscis is a common finding


    • Cyclopia is most severe type



      • Single bony orbit


      • Variable amount of globe doubling


      • Dysplastic tissue may cover orbit


      • Proboscis often above eyes


    • Ethmocephaly



      • Proboscis separates close set eyes


    • Cebocephaly



      • Infraorbital flat nose with single nostril


    • Associated cleft lip and palate



      • Most common is median cleft lip/palate


  • Hypertelorism



    • Eyes too far apart



      • ↑ IOD


      • ↑ BOD is less prominent feature


    • Associated brain anomalies may be subtle



      • Agenesis of corpus callosum


    • Other craniofacial defects common



      • Bilateral cleft lip and palate


      • Large unilateral cleft lip and palate


      • Craniosynostosis


Helpful Clues for Less Common Diagnoses



  • Proptosis



    • Exophytic eyes


    • Forward displacement of globes


    • Often associated with boney cranial anomalies


  • Dacrocystocele



    • Dilatation of lacrimal drainage system



      • Imperforate valves of Hasner


      • Can be large and cause nasal obstruction


    • “Cyst” medial to orbit



      • Unilateral or bilateral


    • Most resolve on own



      • In utero or during first year of life


Helpful Clues for Rare Diagnoses



  • Orbital Tumors



    • Solid mass in orbit



      • Often large and vascular


    • Globe may be displaced or destroyed



      • Unilateral proptosis most common finding


    • Boney orbit distorted or destroyed


    • Look for calcifications in mass (teratoma)


  • Anophthalmia/Microphthalmia



    • Absent or small globe



      • Optic vesicle fails to form appropriately


    • Unilateral or bilateral


Other Essential Information



  • 3D ultrasound extremely helpful



    • Soft tissue detailed anatomy


    • Bone-rendered images




      • Facial clefts


      • Fused sutures (craniosynostosis)


    • Helps non-imagers see the anomalies



      • Parents, genetic counselors, surgeons


  • Fetal MR



    • Helps identify subtle and additional brain anomalies


    • Better delineate extent of tumors


  • Look for signs of holoprosencephaly if hypotelorism present



    • Alobar holoprosencephaly



      • Severe facial anomalies


      • Single ventricle


      • No falx


      • Fused thalami


      • Dorsal sac


    • Semilobar holoprosencephaly



      • Less severe than alobar


      • Face with less severe anomalies or normal


      • Monoventricle anteriorly with separate occipital horns


      • Incomplete falx


      • Partially cleaved thalamus


    • Lobar holoprosencephaly



      • Often with normal face


      • Least severe form


      • Absent cavum septi pellucidi


      • Fused fornices


Alternative Differential Approaches



  • Hypotelorism Associations



    • Trisomy 13


    • Trisomy 18


    • Microcephaly


    • Craniosynostosis



      • Trigonocephaly


    • Smith-Lemli-Opitz syndrome


    • Meckel-Gruber syndrome


    • Myotonic dystrophy


  • Hypertelorism Associations



    • Agenesis of corpus callosum


    • Craniosynostosis



      • Apert syndrome


      • Carpenter syndrome


      • Crouzon syndrome


      • Thanatophoric dysplasia


    • Anterior encephalocele


    • Midline facial mass or cleft


    • Turner syndrome


    • Trisomy 13


    • Antiepileptic drug use


  • Proptosis Associations



    • Anencephaly


    • Apert syndrome


    • Treacher-Collins syndrome


    • Pfeiffer syndrome


    • Neu-Laxová syndrome


  • Anophthalmus/Micropthalmus Causes



    • Single gene mutation


    • Infection


    • X-ray exposure


  • Orbital Tumors Types



    • Teratoma


    • Retinoblastoma


    • Soft tissue sarcoma


    • Rhabdoid tumor


    • Neurofibroma


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Aug 10, 2016 | Posted by in OBSTETRICS | Comments Off on Abnormal Eyes

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