to report the ultrasound biomicroscopy ( ubm ) and surgical findings in a subject with a syndrome of ectopia lentis , spontaneous filtering blebs , and craniofacial dysmorphism ( traboulsi syndrome ) .
case report , using a 40-mhz ubm wide - field anterior segment scan and anterior segment optical coherence tomography ( oct ) .
a 16-year - old orphan girl presented with visual loss to the level of 6/60 ( 20/200 ) bilaterally .
ubm and anterior segment oct revealed chronic apposition of the iris to the cornea with angle closure , delineation of the bleb tract and rarefaction of the zonules .
the girl had abnormal facial features ( a beaked nose and long face ) with normal chromosomal studies , negative fluorescent in situ hybridization study for velocardiofacial syndrome and an absence of signs suggesting marfan syndrome .
under general anesthesia , attempts at deepening the anterior chamber with sodium hyaluronate 3% led to a spontaneous dislocation of the lens into the anterior chamber , facilitating its aspiration .
best corrected visual acuity did not improve from the preoperative level beyond 6/60 ( 20/200 ) because of central retrocorneal fibrosis .
early surgical removal of the lens is necessary in this syndrome to avoid irreversible corneal and trabecular meshwork damage in chronic apposition of the iris to the cornea .
ubm can help in the delineation of the bleb tract and document resolution of angle closure after surgery .
inadvertent bleb may form as a result of a fistula which allows aqueous to flow from the anterior chamber into the subconjunctival space .
most conjunctival blebs follow episodes of scleritis , accidental penetrating injury or ocular surgical procedures ( cataract surgery , scleral fixated intraocular lens implantation , scleral tunnel lensectomy , and cyclophotocoagulation ) .
spontaneous filtering blebs are rare   and have been observed with few systemic disorders ( scleroderma ) , ocular abnormalities ( terrien 's marginal degeneration   and axenfeld syndrome ) , or with systemic conditions , such as familial craniofacial dysmorphism with spontaneous bleb formation [ 6 , 7 ] known in lebanon as traboulsi syndrome .
we present the anterior segment imaging and treatment in a case that provides new insights into the pathophysiology of traboulsi syndrome .
1 ) has been complaining of bilateral visual loss for several years . both uncorrected and corrected ( with 7.0 dpt )
she had a central superficial corneal opacification as well as central retrocorneal nodular thickening bilaterally .
the posterior pole could be visualized in the left eye with difficulty using a 90-dpt lens and revealing a cup - to - disc ratio of 0.1 .
using ultrasonography , the axial length measured 19.41 mm in the right eye and 20.12 mm in the left eye .
the cornea was visualized using anterior optical coherence tomography ( oct ) ( visante oct ; carl zeiss meditec inc . ,
near apposition of the cornea to the iris was clearly demonstrated with angle closure ( fig .
few zonules were delineated . besides the apposition of the iris to the cornea with angle closure , both rarefaction of the zonules and bleb tracts were more clearly imaged by ultrasound biomicroscopy ( ubm ) using a 40-mhz ubm probe ( eye cubed ellex ; ellex innovative imaging inc . ,
, usa ) . under general anesthesia , attempts at deepening the anterior chamber with sodium hyaluronate 3% led to spontaneous dislocation of the lens into the anterior chamber ( fig .
2 ) . deepening of the angle was somewhat more evident on ubm than anterior segment oct after lens removal ( fig .
3 ) , but the bleb height decreased clinically and by ubm ( comparing to the fellow eye ) after surgery ( fig . 5 ) .
best corrected visual acuity did not improve from the preoperative level beyond 6/60 ( 20/200 ) partly from the central retrocorneal scar ( fig .
the patient declined a second eye surgery to remove the subluxated lens after 4 years of follow - up .
1 ) . she had some features suggestive of velocardiofacial syndrome like a prominent broad nose .
genetic consultation ruled out both homocystinuria ( normal serum amino acid quantitation ) and digeorge syndrome ( no deletion in the region 22q11.2 by fluorescent in situ hybridization ) , and confirmed a normal karyotype .
traboulsi and colleagues   described 6 members of a family with a syndrome of mild facial dysmorphism , subluxation of the crystalline lenses , variable degrees of angle closure with iridocorneal adhesions , patchy iris atrophy , and scleral thinning .
three non - operated eyes of two patients had spontaneous filtering blebs that presented as avascular cystic elevations of the superior conjunctiva .
systemic work - up of all patients was negative for evidence of diseases known to be associated with dislocated lenses .
furthermore , traboulsi and colleagues , subsequently reported 4 members of a lebanese druze family with the syndrome of lens dislocation , spontaneous filtering blebs , scleral thinning , anterior segment abnormalities and a distinctive facial appearance not compatible with marfan syndrome ( negative echocardiogram ) , but with autosomal recessive inheritance .
the absence of scleral thinning in the current case may relate to the short eye status hence a thickened sclera .
the formation of spontaneous filtering blebs in reported cases of traboulsi syndrome [ 6 , 7 ] may relate to the scleral thinning .
scleral thinning occurs in progressive myopia as in the family described by dagi and walton .
a posterior channel of communication was apparent on ubm between the bleb and ciliary body similar to the findings in a traumatic bleb as described by khouri et al . .
the current syndrome is different from the syndrome described by dagi and walton   who described the clinical features of an atypical presentation of ectopia lentis consisting of primary anterior axial lens subluxation in childhood , associated progressive myopia , and complicating angle - closure glaucoma but without bleb formation .
this clinical triad consists of rapidly increasing myopia , normal axial length , and progressive axial subluxation .
prophylactic lensectomy provides a safe and sight - saving treatment that arrests and , at times , reverses the progression of angle - closure glaucoma .
ectopia lentis with anterior axial subluxation and progressive myopia can be a sight - threatening condition when significant forward mobilization of the lens results in synechial angle - closure glaucoma .
recognition of this clinical entity can expedite diagnosis and prevent irreversible loss of vision secondary to glaucoma . because the primary mechanism of angle closure is angle crowding , peripheral iridotomy does little to control the rise in intraocular pressure . according to dagi and walton
, lensectomy appears to represent the most definitive treatment in this syndrome ; and lensectomy was ultimately required to halt progressive angle closure resulting from relentless axial subluxation .
similarly , peripheral iridotomy may be of little value in our case and our therapy is to restore the angle anatomy by lens removal .
we hypothesize that uveal effusion in a nanophthalmic or small eye led to angle apposition with anterior segment ischemia resulting in zonular damage and secondary lens subluxation .
alternative explanations include : ( 1 ) primary cleft with secondary forward iris movement and corneal iris apposition and ( 2 ) a primary collagen synthesis problem with subsequent scleral melt , bleb formation , and secondary forward iris movement .
weakening , stretching , or breakage of the zonules frees the lens to migrate and sublux .
ectopia lentis occurs in marfan syndrome as well as in a large number of other inheritable disorders ( homocystinuria , weill - marchesani syndrome , ectopia pupillae , microspherophakia , mandibulofacial dysostosis , etc . ) . it can occur as an isolated abnormality , secondary to ocular trauma or syphilis
myopia in the presence of ectopia lentis in marfan syndrome may be due to axial elongation of the eye .
in addition , two lenticular mechanisms may also contribute to the myopia , and we suspect they are its cause in the present case : an anterior shift of the lens - iris diaphragm moving the focal point of the eye very anteriorly , as well as an antero - posterior thickening of the lens ( spherophakia - like ) . also , peters anomaly is a possibility in the differential diagnosis of central opacity of the cornea with retrocorneal fibrous tissue and with iridocorneal synechiae .
peters anomaly is characterized by central corneal opacity ( leukoma ) , thinning of the posterior aspect of the cornea , iridocorneal adhesions , and keratolenticular adhesion or cataract .
the presence of lens abnormalities in peters anomaly is more frequently associated with systemic anomalies such as a cleft lip and palate , short stature , broad hands and feet , and variable mental delay .
we presented additional insight into the traboulsi syndrome of facial dysmorphism with spontaneous conjunctival blebs using anterior segment oct and ubm technologies .
early lensectomy seems indicated to prevent irreversible corneal scarring and angle damage from chronic apposition of the iris to the cornea .
 purposeto report the ultrasound biomicroscopy ( ubm ) and surgical findings in a subject with a syndrome of ectopia lentis , spontaneous filtering blebs , and craniofacial dysmorphism ( traboulsi syndrome).methodscase report , using a 40-mhz ubm wide - field anterior segment scan and anterior segment optical coherence tomography ( oct).resultsa 16-year - old orphan girl presented with visual loss to the level of 6/60 ( 20/200 ) bilaterally . 
 she had a central corneal opacification with retrocorneal fibrosis . 
 the anterior chamber was flat with a very poorly dilating pupil . 
 the lens was central in location . 
 perilimbal conjunctival blebs were bilateral with an intraocular pressure of 8 mm hg . 
 ubm and anterior segment oct revealed chronic apposition of the iris to the cornea with angle closure , delineation of the bleb tract and rarefaction of the zonules . 
 the girl had abnormal facial features ( a beaked nose and long face ) with normal chromosomal studies , negative fluorescent in situ hybridization study for velocardiofacial syndrome and an absence of signs suggesting marfan syndrome . under general anesthesia , attempts at deepening the anterior chamber with sodium hyaluronate 3% led to a spontaneous dislocation of the lens into the anterior chamber , facilitating its aspiration . 
 deepening of the angle was found after lens removal . 
 retrocorneal fibrosis persisted after surgery , but the bleb height decreased . 
 best corrected visual acuity did not improve from the preoperative level beyond 6/60 ( 20/200 ) because of central retrocorneal fibrosis.conclusionsearly surgical removal of the lens is necessary in this syndrome to avoid irreversible corneal and trabecular meshwork damage in chronic apposition of the iris to the cornea . 
 ubm can help in the delineation of the bleb tract and document resolution of angle closure after surgery . 
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Introduction
Case Report
Discussion