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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 1  |  Page : 207-210

Aftermath in Traboulsi syndrome: A case report


1 Senior Consultant in Cornea and Refractive Surgery, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India
2 Glaucoma Services, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India
3 Senior Consultant Paediatric and Strabismus Surgery, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India

Date of Submission21-Mar-2021
Date of Acceptance29-Jun-2021
Date of Web Publication07-Jan-2022

Correspondence Address:
Dr. Venugopal Anitha
Aravind Eye Hospital, S.N High Road, Tirunelveli Junction, Tirunelveli - 627 001, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_647_21

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  Abstract 


To report a long-term (15 years) follow-up of a patient with a rare congenital ophthalmological disorder known as Traboulsi syndrome. It is characterized by ectopia lentis, congenital blebs, and facial dysmorphism. A 25-year-old female was identified with Traboulsi syndrome based on the typical facial, ocular features, and literature evidence. Serial anterior segment optical coherence tomography (ASOCT) and ultrasound biomicroscopy (UBM) were done to document the anterior segment. This case report discusses the clinical aspects of the syndrome such as its long-term sequelae, complications, and management outcomes.

Keywords: ASPH gene, blebs, ectopia lentis, traboulsi syndrome


How to cite this article:
Anitha V, Rangappa R, Ravindran M, Kader MA. Aftermath in Traboulsi syndrome: A case report. Indian J Ophthalmol Case Rep 2022;2:207-10

How to cite this URL:
Anitha V, Rangappa R, Ravindran M, Kader MA. Aftermath in Traboulsi syndrome: A case report. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Jan 23];2:207-10. Available from: https://www.ijoreports.in/text.asp?2022/2/1/207/334966



Traboulsi syndrome (TS) is characterized by facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs, termed also as Facial dysmorphism,lens dislocation,anterior segment abnormalities and spontaneous filtering blebs (FDLAB) syndrome.[1] It is an autosomal recessive disorder, caused by mutations in aspartate hydroxylase (ASPH) gene, on chromosome 8q12.[1] Patel et al.[1] had explored the syndrome for autozygosity mapping, identified the type of homozygous mutations associated with this disorder. Haddad et al.[2] had delved into the pedigree of the affected Druze family from the mountains of Lebanon. Recently in 2018; Barriga et al.[3] identified a new pathogenic variant in ASPH in a consanguineous Persian family. Isolated cases of Traboulsi syndrome have been also reported.[4] Most of the authors have suggested facial features as the clue to the diagnosis of TS.[5] We identified a patient with the identical clinical features of TS concerning previous case reports[4] and reported a long-term follow-up of a 25-year-old female, the clinical features, complications, and its management outcomes.


  Case Report Top


A 25-year-old girl presented to us 15 years back with complaints of defective vision in both eyes since birth. Her vision in the right eye was improving to 6/24 with − 9DS and − 1cyl at 90 degrees axis, left eye was 6/36 with − 13DS. Intraocular pressure in both eyes with I care was 4 mmHg. She was the second child of nonconsanguineous parents. Her elder brother is unaffected by history. On slit-lamp examination, RE showed superior limbal scleral thinning with the uveal show from 11'oclock to 2'oclock, the cornea was hazy with the interpalpebral band-shaped keratopathy, and the anterior chamber was flat with ectopia lentis [Figure 1]. The left eye revealed superior avascular bleb overriding the cornea. The cornea appeared oedematous with the central band-shaped keratopathy, shallow anterior chamber (AC), ectopia lentis. On general examination, she was thin built, with elongated faces, a long-beaked nose, and flat cheeks [Figure 2]. With the typical facial and ocular features, a clinical diagnosis of TS was made, along with the previous literature evidence. Ultrasound B scan (USG) B scan was within normal limits, axial length in RE was 21.50 mm, LE was 20.95 mm. She followed up regularly in glaucoma and cornea clinics. The size of the blebs was the same throughout her visits. At 15 years of age, only the right eye fundus was visible and appeared normal. UBM and ASOCT showed complete 360-degree apposition of angles and iridocorneal touch [Figure 3]a and [Figure 3]b. UBM also showed a posterior channel of communication between the bleb and the ciliary body. During her follow-up, both corneas were decompensating due to progressive iridocorneal touch and she lost vision in both eyes (hand movements in both eyes) at 20 years of age [Figure 4]a. Two years back (2018); she underwent penetrating keratoplasty (PK) with surgical peripheral iridectomy at 2'oclock under general anesthesia [Figure 4]b in the left eye due to comparatively low and avascular bleb. Intraoperatively, an inferiorly dislocated lens was noted and not removed. The postoperative period was uneventful. She was started on tapering doses of topical steroids and a maintenance dose of a once-daily dose of loteprednol was given with regular intraocular pressure IOP/fundus monitoring. After 1 month of PK, the lens appeared completely dislocated from the patellar fossa. During her last visit, her best-corrected visual acuity (BCVA) in LE was 6/9p with + 12D/+4.5cyl at 30 with clear graft.
Figure 1: Right eye showing corneal edema and decompensation with spontaneous blebs with uveal show in the superior limbus

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Figure 2: Typical facial features of Traboulsi syndrome: elongated face, flat cheeks, long-beaked nose

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Figure 3: (a) ASOCT of both eyes shows the flat anterior chamber. (b) UBM showing the flat anterior chamber in the right eye with bleb tracks and the left eye, the anterior chamber is formed with clear cornea but the angles are closed

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Figure 4: (a) Progressive corneal decompensation with total corneal edema in RE at 25 years of age. (b) Left eye post penetrating keratoplasty with clear graft

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  Discussion Top


Traboulsi syndrome is a rare ophthalmological condition characterized by facial dysmorphism, lens dislocation, anterior chamber abnormalities, and spontaneous filtering blebs. The first report of familial occurrence of this disorder was identified by Shawaf et al. in 1995.[5] Till to date, only 10 individuals with this syndrome from two families[2],[5] and four isolated case reports[1],[3],[4],[6] have been reported in the literature. They all had similar craniofacial dysmorphic features along with ectopia lentis, anterior segment abnormalities, and spontaneous filtering blebs with autosomal recessive inheritance patterns. The initial attempt of autozygosity mapping and whole-exome sequencing was done by Patel et al.,[1] to identify the ASPH gene mutations (truncating and missence) as the basis for the syndrome.

The forward mobilization of the lens causes synechiae angle closure, iridocorneal touch, and eventually corneal edema[4] but glaucoma does not develop due to the congenital blebs.[7] The role of peripheral iridotomy in these cases had been discussed by a few authors.[4] Since the angle closure was due to synechiae, PI does not restore the angle anatomy.

In previous case reports on Traboulsi syndrome, patients presented with spontaneous congenital blebs and clear corneas.[4] Many authors have proposed that early lensectomy prevents progressive angle closure resulting from relentless axial subluxation and avoids irreversible corneal and trabecular meshwork damage.[8] Our patient attended our clinics regularly for 15 long years and slowly developed progressive corneal decompensation in both eyes. We were hesitant to remove the lens due to bleb and scleral thinning. We also thought the cataract surgery may interrupt the structure of the bleb and cause a permanent aqueous leak not amendable to treatment. The penetrating keratoplasty proved to be an effective alternative option for visual rehabilitation. The spontaneous dislocation of the lens in the vitreous in our patient was a stroke of luck and the early/late postoperative period was uneventful without inflammation in the posterior segment. She had good visual improvement with aphakic glasses. Previously spontaneous blebs have been noted to occur in association with Axenfeld–Rieger syndrome,[8] Terrien's marginal degeneration,[8] scleroderma,[8] and SLE.[9] Although the pathogenesis of blebs in these patients was different, the genetic basis of true spontaneous blebs was proposed in TS.[1] The typical findings of our patient presented were compared to previous studies in [Table 1] (Shawaf et al.,1995[5]; Haddad et al., 2001[2]; Abarca Barriga et al., 2018[3]; Mansour et al., 2013[4]; Patel et al., 2014[1]; Chandran et al., 2019[8]; Mohammadi et al. 2020[6]). All the patients, had similar clinical findings, ectopia lentis, anterior segment abnormalities, spontaneous filtering blebs, and the typical craniofacial dysmorphic features of ASPH mutations.[1] In addition, our patient had developed the chronic sequelae of the syndrome (corneal decompensation) that was noted after 15 years of follow-up and the prompt surgical intervention with keratoplasty had resulted in a good visual outcome.
Table 1: The review of literature on Traboulsi syndrome and its salient features with comparison to our case report

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  Conclusion Top


The typical clinical and ocular findings of TS in the previous reports[4] on this syndrome steered us to identify and diagnose the disorder in our patient. Even though we failed to do an early lensectomy, we achieved a good BCVA in our patient after penetrating keratoplasty (PKP) with a clear graft at 24 months of follow-up. Ours is one of the few case reports of TS that has discussed the clinical aspects and its long-term sequelae.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, et al. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or traboulsi syndrome. Am J Hum Genet 2014;94:755-9.  Back to cited text no. 1
    
2.
Haddad R, Uwaydat S, Dakroub R, Traboulsi EI. Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance. Am J Med Genet 2001;99:185-9.  Back to cited text no. 2
    
3.
Abarca Barriga HH, Caballero N, Trubnykova M, Castro-Mujica MDC, La Serna-Infantes JE, Vásquez F, et al. A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome. Am J Med Genet A 2018;176:2494-500.  Back to cited text no. 3
    
4.
Mansour AM, Younis MH, Dakroub RH. Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Case Rep Ophthalmol 2013;4:84-90.  Back to cited text no. 4
    
5.
Shawaf S, Noureddin B, Khouri A, Traboulsi EI. A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Ophthalmic Genet 1995;16:163-9.  Back to cited text no. 5
    
6.
Mohammadi M, Tabatabaei SM. Bilateral spontaneous filtering blebs. Am J Ophthalmol Case Rep 2020;20:100948.  Back to cited text no. 6
    
7.
Dagi LR, Walton DS. Anterior axial lens subluxation, progressive myopia, and angle-closure glaucoma: Recognition and treatment of atypical presentation of ectopia lentis. J AAPOS 2006;10:345-50.  Back to cited text no. 7
    
8.
Chandran P, Khairnar AS, Aboobacker N, Raman GV. Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of the literature. Indian J Ophthalmol 2018;66:134-6.  Back to cited text no. 8
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9.
Mantravadi AV, Stock EL. Spontaneous filtration bleb as a consequence of scleritis. Arch Ophthalmol 2007;125:1578-9.  Back to cited text no. 9
    


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