Bilateral Clinical Bilateral Clinical AnophthalmosAnophthalmos

Caleb Sawyer, MDCaleb Sawyer, MDResidentResident

Jorge Corona, MDJorge Corona, MDFaculty AdvisorFaculty Advisor

Case PresentationCase Presentation

4 y/o Hispanic female with bilateral 4 y/o Hispanic female with bilateral clinical anophthalmosclinical anophthalmos

Profound developmental delayProfound developmental delay

Otherwise healthyOtherwise healthy

Fitted with conformers 3 times since Fitted with conformers 3 times since birthbirth

DefinitionsDefinitions

Anophthalmia = complete absence of Anophthalmia = complete absence of an eyean eye

Clinical anophthalmia = small cystic Clinical anophthalmia = small cystic remnant of globe is seen on remnant of globe is seen on pathologic examinationpathologic examination

Microphthalmos = grossly visible, but Microphthalmos = grossly visible, but small malformed globesmall malformed globe

PathophysiologyPathophysiology

Anophthalmia: Neuroectoderm of the Anophthalmia: Neuroectoderm of the primary optic vesicle fails to develop primary optic vesicle fails to develop properly from the anterior neural properly from the anterior neural plate of the neural tube during week plate of the neural tube during week 1-4 of embryological development.1-4 of embryological development.

Microphthalmia: development problem Microphthalmia: development problem with optic vesicle in week 4 or laterwith optic vesicle in week 4 or later

MorbidityMorbidity

Outgrowth of the globe drives growth Outgrowth of the globe drives growth and development of the bony orbit .and development of the bony orbit .

Prevents fitting of prosthesisPrevents fitting of prosthesis Unilateral anophthalmos Unilateral anophthalmos hemifacial hemifacial

hypoplasiahypoplasia Bilateral anophthalmos Bilateral anophthalmos central central

hypoplasiahypoplasia

Associated Ocular FindingsAssociated Ocular Findings Orbital findingsOrbital findings

Small orbital rim and entranceSmall orbital rim and entrance Reduced size of bony orbital cavityReduced size of bony orbital cavity Extraocular muscles usually absentExtraocular muscles usually absent Lacrimal gland may be absentLacrimal gland may be absent Small and maldeveloped optic foramenSmall and maldeveloped optic foramen

Eyelid findingsEyelid findings Foreshortening of the lids in all directionsForeshortening of the lids in all directions Absent or decreased levator function with Absent or decreased levator function with

decreased lid foldsdecreased lid folds Contraction of orbicularis oculi muscleContraction of orbicularis oculi muscle Shallow conjunctival fornix, especially inferiorlyShallow conjunctival fornix, especially inferiorly

Rare ConditionRare Condition

U.S. congenital anophthalmos U.S. congenital anophthalmos prevalence rate of 3 per 100,000.prevalence rate of 3 per 100,000.

Spanish Study of 1.1 million births:Spanish Study of 1.1 million births: 36/100,000 with eye malformations36/100,000 with eye malformations 23/100,000 with 23/100,000 with

anophthalmia/microphthalmiaanophthalmia/microphthalmia

No racial predilectionNo racial predilection No sex predilectionNo sex predilection

CausesCauses

Idiopathic/sporadicIdiopathic/sporadic Inherited as dominant, recessive, or sex-Inherited as dominant, recessive, or sex-

linkedlinked Chromosome deletion in band 14q22-23 Chromosome deletion in band 14q22-23

with associated polydactylywith associated polydactyly Trisomy 13-15Trisomy 13-15 Maternal infections or teratogenic Maternal infections or teratogenic

exposure exposure 75% associated with syndromes75% associated with syndromes

Role of head/orbit CT or Role of head/orbit CT or MRIMRI

Look for extremely microphthalmic Look for extremely microphthalmic globeglobe

Bilateral anophthalmosBilateral anophthalmos associated absence of the optic chiasmassociated absence of the optic chiasm dysgenesis of the corpus callosumdysgenesis of the corpus callosum

Unilateral anophthalmos may have Unilateral anophthalmos may have severe craniofacial anomaliessevere craniofacial anomalies

3D CT Reconstruction3D CT Reconstruction

Treatment OptionsTreatment Options

Progressive conformersProgressive conformers Easily extrudedEasily extruded

Balloon expandersBalloon expanders Easily extruded and require cooperationEasily extruded and require cooperation

Progressive orbital implantsProgressive orbital implants Require multiple surgeriesRequire multiple surgeries

Hydrogel tissue expander implantHydrogel tissue expander implant Good early resultsGood early results Late complications in scleral bucklingLate complications in scleral buckling

ComplicationsComplications

Significant cosmetic deformities if Significant cosmetic deformities if not treated earlynot treated early

Fitted prostheses are completely Fitted prostheses are completely immobile.immobile.

Shortened and immobile eyelidsShortened and immobile eyelids Even with treatment, results often Even with treatment, results often

are cosmetically disappointing.are cosmetically disappointing.

Patient EducationPatient Education

Treatment will be long and Treatment will be long and complicatedcomplicated

Multiple surgical treatments Multiple surgical treatments throughout a patient’s lifetimethroughout a patient’s lifetime

Consider genetic counseling in Consider genetic counseling in familial casesfamilial cases

ReferencesReferences Bermejo E, Martinez-Frias ML. “Congenital eye malformations: Bermejo E, Martinez-Frias ML. “Congenital eye malformations:

clinical-epidemiological analysis of 1,124,654 consecutive clinical-epidemiological analysis of 1,124,654 consecutive births in Spain.”Am J Med Genet. 1998 Feb 17;75(5):497-504. births in Spain.”Am J Med Genet. 1998 Feb 17;75(5):497-504.

Chen D, Heher K. “Management of the anophthalmic socket in Chen D, Heher K. “Management of the anophthalmic socket in pediatric patients.” Curr Opin Ophthalmol. 2004 Oct;15(5):449-pediatric patients.” Curr Opin Ophthalmol. 2004 Oct;15(5):449-53. Review.53. Review.

Dunaway DJ, David DJ. “Intraorbital tissue expansion in the Dunaway DJ, David DJ. “Intraorbital tissue expansion in the management of congenital anophthalmos.” Br J Plast Surg. management of congenital anophthalmos.” Br J Plast Surg. 1996 Dec;49(8):529-35. 1996 Dec;49(8):529-35.

EMedicine EMedicine http://www.emedicine.com/oph/topic572.htmhttp://www.emedicine.com/oph/topic572.htm Mazzoli, Robert A; Raymond, William R IV; Ainbinder, Darryl J; Mazzoli, Robert A; Raymond, William R IV; Ainbinder, Darryl J;

Hansen, Elizabeth A. “Use of self-expanding, hydrophilic Hansen, Elizabeth A. “Use of self-expanding, hydrophilic osmotic expanders (hydrogel) in the reconstruction of osmotic expanders (hydrogel) in the reconstruction of congenital clinical anophthalmos,” Current Opinion in congenital clinical anophthalmos,” Current Opinion in Ophthalmology. 15(5):426-431, October 2004.Ophthalmology. 15(5):426-431, October 2004.

Yanoff: Ophthalmology, 2nd ed., 2004 Mosby, Inc.Yanoff: Ophthalmology, 2nd ed., 2004 Mosby, Inc. Young A, O'Keefe M. “Bilateral clinical anophthalmos.” Acta Young A, O'Keefe M. “Bilateral clinical anophthalmos.” Acta

Ophthalmol Scand. 1997 Jun;75(3):308-10. Ophthalmol Scand. 1997 Jun;75(3):308-10.