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CASE REPORT
Year : 2017  |  Volume : 4  |  Issue : 1  |  Page : 41-42

Blepharophimosis syndrome: A rare disorder


1 Department of Ophthalmology, G.M.C.H, Chandrapur, Maharashtra, India
2 Department of Pathology, G.M.C.H, Chandrapur, Maharashtra, India
3 Department of Anatomy, G.M.C.H, Chandrapur, Maharashtra, India

Date of Web Publication8-May-2017

Correspondence Address:
Chandan Govind Tiple
S/O G.N. Tiple, Ashok Nagar, Near Ashok Buddha Vihar, Visapur, Tah.Ballarpur, Chandrapur - 442 701, Maharashtra
India
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DOI: 10.4103/1858-6538.205801

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  Abstract 

This report is a case of blepharophimosis syndrome in a 21-year-old male patient who presented to the outpatient department for handicapped certificate on account of poor vision. There was no history of similar occurrence in the family of the patient. The patient's vision was 6/18 in both eyes. The patient had refraction which revealed hyperopic astigmatism, but the vision did not improve due to amblyopia that the patient had. In view of cosmetic reasons, the patient was encouraged to have ptosis surgery.

Keywords: Amblyopia, blepharophimosis syndrome, male patient


How to cite this article:
Tiple CG, Tiple N, Kawale S, Rangari P. Blepharophimosis syndrome: A rare disorder. Albasar Int J Ophthalmol 2017;4:41-2

How to cite this URL:
Tiple CG, Tiple N, Kawale S, Rangari P. Blepharophimosis syndrome: A rare disorder. Albasar Int J Ophthalmol [serial online] 2017 [cited 2021 Jan 16];4:41-2. Available from: https://www.bijojournal.org/text.asp?2017/4/1/41/205801


  Introduction Top


Blepharophimosis syndrome is a congenital eyelid malformation. It was first reported in 1841 by von Ammon.[1] It is inherited in an autosomal dominant fashion.[2] In humans, the upper and lower eyelids normally fuse together in the 8-week of development and separate again between 5th and 7th month.[3] Abnormal eyelid development has been observed in both mice and humans, but the molecular events governing both normal and abnormal eyelids development are not fully understood.[4] However, some progress in understanding the molecular genetic basis of blepharophimosis syndrome has already been made.[5] Blepharophimosis syndrome is associated with dominantly inherited mutation in the FOXL2 gene on chromosome 3q23. The gene is expressed in the development of eyelid and ovary.[6] Up to 75% of patients with blepharophimosis syndrome have relatives who have FOXL2 mutation; the remaining 25% of cases represent new mutation or milder expression in previous generations. In Type 1, blepharophimosis syndrome is characterized by complete penetrance and transmission through males because of impaired female fertility due to premature ovarian failure. In Type 2, there is incomplete penetrance and transmission by both males and females.[4],[6] Other chromosomal regions have been implicated in the etiology of blepharophimosis syndrome. Maw et al. reported linkage of blepharophimosis syndrome in large Indian pedigree to chromosome 7p13–p21.[5] Blepharophimosis syndrome features include epicanthus inversus, low nasal bridge, and ptosis of the eyelid resulting in narrowing of the palpebral fissures. Associated features of the eye include nystagmus, microphthalmos, microcornea, and stenosis of the lateral canaliculi.[2] Other features of blepharophimosis syndrome include mental retardation seen mainly in sporadic cases.[2] Refractive errors, amblyopia, and strabismus are commonly associated with blepharophimosis syndrome.[7] It is also often associated with nasolacrimal drainage problems. There was an incidence of 18% of nasolacrimal drainage problems in a previous study.[8] In view of the rarity of blepharophimosis syndrome in this environment, we decided to highlight the case of bleparophimosis syndrome with associated amblyopia.


  Case Report Top


A 21-year-old male patient came to outpatient department for handicapped certificate on account of poor vision. There is no history of trauma to the eyes and no history of use of recommended glasses. There is no family history of drooping of the lids. On examination, patient had slightly developed backward head tilt position and raised arched eyebrows.

On ocular examination, the visual acuity was 6/18 on both eyes. There was no improvement in visual acuity with pinhole. The patient had bilateral ptosis. Evaluation of the ptosis revealed palpebral fissure height of 5 mm on the both eyes. The margin reflex distance was zero. Upper lid crease was absent with poor levator palpebrae superioris action. The patient also had bilateral epicanthus inversus and telecanthus [Figure 1]. The remaining structures in the anterior segment were normal. Fundoscopic examination revealed pink optic disc with a cup-disc ratio of 0.3 with normal vessels in both eyes. An assessment of blepharophimosis syndrome was made. The patient had refraction which revealed hyperopic astigmatism in both eye, but the vision did not improve due to the amblyopia that the patient had, thus recommended glasses were not prescribed. The patient was to be referred to an oculoplastic surgeon for ptosis surgery.
Figure 1: Bilateral epicanthus inversus, ptosis, and telecanthus

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  Discussion Top


The late presentation of this patient could have led to stimulus deprivation amblyopia. There have been previous reports of amblyopia associated with blepharophimosis syndrome. A study by Jethani et al. in India reported that 31.5% of their patients with blepharophimosis syndrome had amblyopia.[7] In case series reported by Beckingsale et al., 39% of the 28 patients with blepharophimosis syndrome had amblyopia.[8] The authors concluded that patients with blepharophimosis syndrome had a high rate of amblyopia.[8] In a case series of 101 of blepharophimosis syndrome reviewed by Beaconsfield et al. in London, 56.4% of them had amblyopia.[9] It has been advocated that patients with severe ptosis should have their ptosis corrected before 3 years of age, and all other patients should undergo surgery before 5 years of age.[8] It is a pity that the case highlighted presented late. It is, however, to the advantage of the patient that he did not have coexisting strabismus which could have doubled the risk of amblyopia in him. Blepharophimosis syndrome is often bilateral and symmetrical. The patients usually have smaller than normal eyelid opening. There was, however, a report of unilateral blepharophimosis syndrome in China by Cai et al.[2] Blepharophimosis syndrome is often associated with nasolacrimal drainage problems. Athappilly et al. reported congenital alacima in a patient with blepharophimosis syndrome.[10] The severity of ptosis in blepharophimosis syndrome may make children adopt a chin up, backward head-tilt position and to recruit the frontalis in elevating the lids leading to raised arched eyebrows.

This is noteworthy considering the fact that blepharophimosis syndrome most especially the sporadic type is associated with mental retardation. Cai et al. in China reported a novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.[2]

We conclude that early corrective surgery to prevent the development of amblyopia in blepharophimosis syndrome is advised. Genetic counseling may be of benefit for the patient and their families. Our decision to refer the patient for ptosis surgery for cosmetic reasons might lead to increase public awareness for early corrective surgery.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
von Ammon. Klinische Darstellung der Krankheiten des Auges und Augenlides. Berlin: Reimer; 1841.  Back to cited text no. 1
    
2.
Cai T, Tagle DA, Xia X, Yu P, He XX, Li LY, et al. A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q. J Med Genet 1997;34:772-6.  Back to cited text no. 2
    
3.
Sevel D. A reappraisal of the development of the eyelids. Eye (Lond) 1988;2(Pt 2):123-9.  Back to cited text no. 3
    
4.
Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) J Med Genet 1988;25:47-51.  Back to cited text no. 4
    
5.
Maw M, Kar B, Biswas J, Biswas P, Nancarrow D, Bridges R, et al. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum Mol Genet 1996;5:2049-54.  Back to cited text no. 5
    
6.
Allen CE, Rubin PA. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): Clinical manifestation and treatment. Int Ophthalmol Clin 2008;48:15-23.  Back to cited text no. 6
    
7.
Jethani J, Kim U, Kharzei H, Vijayalaksmi P. Blepharophimosis syndrome and its association with amblyopia and refractive errors in a South Indian population. Asian J Ophthalmol 2007;9:68-71.  Back to cited text no. 7
    
8.
Beckingsale PS, Sullivan TJ, Wong VA, Oley C. Blepharophimosis: A recommendation for early surgery in patients with severe ptosis. Clin Experiment Ophthalmol 2003;31:138-42.  Back to cited text no. 8
    
9.
Beaconsfield M, Walker JW, Collin JR. Visual development in the blepharophimosis syndrome. Br J Ophthalmol 1991;75:746-8.  Back to cited text no. 9
    
10.
Athappilly GK, Braverman RS. Congenital alacrima in a patient with blepharophimosis syndrome. Ophthalmic Genet 2009;30:37-9.  Back to cited text no. 10
    


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