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Year : 2020  |  Volume : 58  |  Issue : 1  |  Page : 55-56

A rare case of bilateral Franceschetti–Goldenhar syndrome manifesting as uniocular amblyopia


1 Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Puducherry, India
2 Consultant Cornea and Refractive Services, Aravind Eye Hospital, Puducherry, India
3 Cataract and IOL Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Puducherry, India

Date of Submission10-Nov-2019
Date of Acceptance23-Nov-2019
Date of Web Publication04-Mar-2020

Correspondence Address:
Dr. Kirandeep Kaur
Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Puducherry - 605 007
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_107_19

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How to cite this article:
Gurnani B, Kaur K, Christy J, Gireesh P. A rare case of bilateral Franceschetti–Goldenhar syndrome manifesting as uniocular amblyopia. TNOA J Ophthalmic Sci Res 2020;58:55-6

How to cite this URL:
Gurnani B, Kaur K, Christy J, Gireesh P. A rare case of bilateral Franceschetti–Goldenhar syndrome manifesting as uniocular amblyopia. TNOA J Ophthalmic Sci Res [serial online] 2020 [cited 2020 Jun 1];58:55-6. Available from: http://www.tnoajosr.com/text.asp?2020/58/1/55/279995



An 11-year-old female child at campsite presented to us with the complaints of defective vision in the right eye (RE) [Figure 1]b since birth, informant being her mother. Best-corrected visual acuity in the RE was perception of light and in the left eye (LE) was 20/20. Ocular examination in the RE revealed hypotrichosis of eyelashes and inferior dystopia with temporal epibulbar lipodermoid infiltrating the cornea, and the rest of the details were not discernible. LE examination revealed temporal limbal dermoid and Duane retraction syndrome type 1, and the rest of the anterior segment was normal [Figure 1]a. General examination revealed preauricular fistula with inferior preauricular tag and hearing loss in the right ear [Figure 2]a and postauricular appendage in the left ear [Figure 2]b. There were facial dysmorphism, right-sided mandibular hypoplasia [Figure 3]a, zygomatic hypoplasia, malocclusion with malformed teeth, right-sided deviated nasal septum, clavicular and vertebral anomalies, and short stature [Figure 3]b. Hence, as a result, a diagnosis of bilateral Franceschetti–Goldenhar syndrome was made with amblyopia in the RE. In view of stimulus deprivation amblyopia in the RE and 20/20 vision in the LE, the patient was advised observation and advised to follow-up after 3 months. The patient was also given an option of surgical excision of dermoid for cosmesis.
Figure 1: (a) Left eye image of the child depicting temporal limbal dermoid. (b) Right eye image of the child depicting hypotrichosis of eyelashes, inferior dystopia with temporal epibulbar lipodermoid infiltrating the cornea manifesting as amblyopia

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Figure 2: (a) Image of the right ear of the child depicting preauricular fistula with inferior preauricular tag. (b) Image of the left ear of the child depicting postauricular appendage

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Figure 3: (a) Gross image of the child depicting facial dysmorphism and right-sided mandibular hypoplasia. (b) Image of the child depicting facial dysmorphism, right-sided mandibular hypoplasia, zygomatic hypoplasia, malocclusion with malformed teeth, right-sided deviated nasal septum, clavicular and vertebral anomalies, and short stature

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Franceschetti–Goldenhar syndrome (oculo-auriculo-vertebral dysplasia) is a rare congenital syndrome of structures developed from the first and second branchial arches during blastogenesis.[1] The incidence has been reported to be 1:3500–1:5600, with a male-to-female ratio of 3:2, and it is mostly unilateral in occurrence in 85% of the cases, with the right side being more frequently affected than the left with a ratio of 3:2.[2] del Rocio et al. in their study found amblyopia to be present in 14% of patients with ocular dermoids.[3] Stergiopoulos et al. found that 19 out of 47 patients (40%) with solid corneal dermoids or subconjuctival lipodermoids in their study suffered from amblyopia.[4]

This syndrome is characterized by a triad of epibulbar dermoids, preauricular appendages, and preauricular fistulas. The other manifestations include auricular abnormalities, dacryocystitis, hypoplasia of the malar bones, mandible, and zygomatic arch. Some rare associations recorded are macrostomia, micrognathia, high-vaulted cleft palate, bifid tongue, malocclusion, and other dental abnormalities.[5] Involvement of the axial skeleton (vertebrae and ribs) has been observed in 24% of the patients in the largest series reported by Rollnick et al.[6] These lesions are prone to amblyopia and strabismus, although with identification and early excision of the limbal dermoid lesions, amblyopia, and strabismus can be avoided. As a result, this can ameliorate the visual prognosis of Franceschetti–Goldenhar patients.[7]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given their consent for her images and other clinical information to be reported in the journal. The patient's parents understand that her 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.
Jones KL. In: Smith's Recognizable Patterns of Human Malformation. 4th ed. Philadelphia: WB Saunders Co.; 1988. p. 584.  Back to cited text no. 1
    
2.
Tewfik HA, Abdulhafez MH, Fouad YA. Congenital upper eyelid coloboma: Embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives. Ophthalmic Plast Reconstr Surg 2015;31:1-2.  Back to cited text no. 2
    
3.
del Rocio Arce Gonzalez M, Navas A, Haber A, Ramírez-Luquín T, Graue-Hernández EO. Ocular dermoids: 116 consecutive cases. Eye Contact Lens 2013;39:188-91.  Back to cited text no. 3
    
4.
Stergiopoulos P, Link B, Naumann GO, Seitz B. Solid corneal dermoids and subconjunctival lipodermoids: Impact of differentiated surgical therapy on the functional long-term outcome. Cornea 2009;28:644-51.  Back to cited text no. 4
    
5.
Ignacio Rodríguez J, Palacios J, Lapunzina P. Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex. Am J Med Genet 1993;47:69-74.  Back to cited text no. 5
    
6.
Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO. Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. Am J Med Genet 1987;26:361-75.  Back to cited text no. 6
    
7.
Sugar HS. An unusual example of the oculo-auriculovertebral dysplasia syndrome of Goldenhar. J Pediatr Ophthalmol 1967;4:9-12.  Back to cited text no. 7
    


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  [Figure 1], [Figure 2], [Figure 3]



 

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