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Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.

Shah BM, Dada T, Panda A, Tanwar M, Bhartiya S, Dada R - Indian J Ophthalmol (2014)

Bottom Line: Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus.We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma.Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX) involved in a variety of developmental processes.

View Article: PubMed Central - PubMed

Affiliation: Glaucoma and Cornea Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, New Delhi, India.

ABSTRACT
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX) involved in a variety of developmental processes.

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Goniophotograph showing a prominent Schwalbe's line with peripheral broad based anterior synechiae and iris hole
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Figure 2: Goniophotograph showing a prominent Schwalbe's line with peripheral broad based anterior synechiae and iris hole

Mentions: Slit lamp examination revealed corectopia with iris hole in the right eye. Gonioscopically, the features were similar in both the eyes and included a prominent anteriorly shifted Schwalbe's line with prominent iridocorneal tissue strands, anterior insertion of the iris, and a few broad based peripheral anterior synechiae [Fig. 2]. The intraocular pressures were 18 and 20 mm of Hg respectively with the Goldmann applanation tonometry. Fundus examination revealed a vertically oval optic disk with 0.2 cups and sharp foveal reflex in both the eyes. Visual field examinations with the Humphrey 30-2 SITA Standard protocol did not reveal any glaucomatous changes. Systemic examination was unremarkable except for mild mental retardation (IQ range: 62-66). PCR-based mutation detection of the PITX2 gene showed the absence of any mutations in all exons and promoter region in proband and siblings, suggesting that other loci may be responsible for the phenotype.


Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.

Shah BM, Dada T, Panda A, Tanwar M, Bhartiya S, Dada R - Indian J Ophthalmol (2014)

Goniophotograph showing a prominent Schwalbe's line with peripheral broad based anterior synechiae and iris hole
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4061684&req=5

Figure 2: Goniophotograph showing a prominent Schwalbe's line with peripheral broad based anterior synechiae and iris hole
Mentions: Slit lamp examination revealed corectopia with iris hole in the right eye. Gonioscopically, the features were similar in both the eyes and included a prominent anteriorly shifted Schwalbe's line with prominent iridocorneal tissue strands, anterior insertion of the iris, and a few broad based peripheral anterior synechiae [Fig. 2]. The intraocular pressures were 18 and 20 mm of Hg respectively with the Goldmann applanation tonometry. Fundus examination revealed a vertically oval optic disk with 0.2 cups and sharp foveal reflex in both the eyes. Visual field examinations with the Humphrey 30-2 SITA Standard protocol did not reveal any glaucomatous changes. Systemic examination was unremarkable except for mild mental retardation (IQ range: 62-66). PCR-based mutation detection of the PITX2 gene showed the absence of any mutations in all exons and promoter region in proband and siblings, suggesting that other loci may be responsible for the phenotype.

Bottom Line: Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus.We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma.Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX) involved in a variety of developmental processes.

View Article: PubMed Central - PubMed

Affiliation: Glaucoma and Cornea Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, New Delhi, India.

ABSTRACT
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX) involved in a variety of developmental processes.

Show MeSH
Related in: MedlinePlus