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A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.
Eur J Ophthalmol. 2019 Nov 22 [Online ahead of print]EJ

Abstract

PURPOSE

The aim of reporting this case is to describe a rare combination of blepharophimosis-ptosis-epicanthus inversus syndrome with congenital nasolacrimal duct obstruction. A variety of lacrimal anomalies have been seen in blepharophimosis-ptosis-epicanthus inversus syndrome but the occurrence of nasolacrimal duct obstruction is rare.

METHOD

The blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant rare genetic defect with clinical manifestation of dysplasia of the eyelids, palpebral fissures, flat nasal bridge, and ptosis. A 20-month-old boy was referred with the complaints of watering and discharge from his right eyes since birth. On examination, the child had all the features of blepharophimosis-ptosis-epicanthus inversus syndrome with right congenital nasolacrimal duct obstruction in line with the published reports.

RESULT

On endoscopic probing and irrigation, the probe could not be visualized into the inferior meatus. On dacryoendoscopy, the membranous part of the nasolacrimal duct was found to be completely obliterated with no light transmission into the nose indicating a malformed nasolacrimal duct. The child was managed by endoscopic dacryocystorhinostomy. We could find only one case report published so far on the combination of congenital nasolacrimal duct obstruction with blepharophimosis-ptosis-epicanthus inversus syndrome. This study adds one more case of blepharophimosis-ptosis-epicanthus inversus syndrome with congenital nasolacrimal duct obstruction and adjuvant use of dacryoendoscopy.

Authors+Show Affiliations

Dr. Shroff's Charity Eye Hospital, New Delhi, India.Dr. Shroff's Charity Eye Hospital, New Delhi, India.Dr. Shroff's Charity Eye Hospital, New Delhi, India.Dr. Shroff's Charity Eye Hospital, New Delhi, India.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31752537

Citation

Gupta, Nishi, et al. "A Rare Association of Blepharophimosis-ptosis-epicanthus Inversus Case With Congenital Nasolacrimal Duct Obstruction." European Journal of Ophthalmology, 2019, p. 1120672119886427.
Gupta N, Ganesh S, Singla P, et al. A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction. Eur J Ophthalmol. 2019.
Gupta, N., Ganesh, S., Singla, P., & Kumar, S. (2019). A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction. European Journal of Ophthalmology, 1120672119886427. https://doi.org/10.1177/1120672119886427
Gupta N, et al. A Rare Association of Blepharophimosis-ptosis-epicanthus Inversus Case With Congenital Nasolacrimal Duct Obstruction. Eur J Ophthalmol. 2019 Nov 22;1120672119886427. PubMed PMID: 31752537.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction. AU - Gupta,Nishi, AU - Ganesh,Suma, AU - Singla,Poonam, AU - Kumar,Sunil, Y1 - 2019/11/22/ PY - 2019/11/23/pubmed PY - 2019/11/23/medline PY - 2019/11/23/entrez KW - Blepharophimosis ptosis epicanthus inversus syndrome KW - congenital nasolacrimal duct obstruction KW - dacryoendoscopy KW - endoscopic dacryocystorhinostomy KW - nasolacrimal duct SP - 1120672119886427 EP - 1120672119886427 JF - European journal of ophthalmology JO - Eur J Ophthalmol N2 - PURPOSE: The aim of reporting this case is to describe a rare combination of blepharophimosis-ptosis-epicanthus inversus syndrome with congenital nasolacrimal duct obstruction. A variety of lacrimal anomalies have been seen in blepharophimosis-ptosis-epicanthus inversus syndrome but the occurrence of nasolacrimal duct obstruction is rare. METHOD: The blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant rare genetic defect with clinical manifestation of dysplasia of the eyelids, palpebral fissures, flat nasal bridge, and ptosis. A 20-month-old boy was referred with the complaints of watering and discharge from his right eyes since birth. On examination, the child had all the features of blepharophimosis-ptosis-epicanthus inversus syndrome with right congenital nasolacrimal duct obstruction in line with the published reports. RESULT: On endoscopic probing and irrigation, the probe could not be visualized into the inferior meatus. On dacryoendoscopy, the membranous part of the nasolacrimal duct was found to be completely obliterated with no light transmission into the nose indicating a malformed nasolacrimal duct. The child was managed by endoscopic dacryocystorhinostomy. We could find only one case report published so far on the combination of congenital nasolacrimal duct obstruction with blepharophimosis-ptosis-epicanthus inversus syndrome. This study adds one more case of blepharophimosis-ptosis-epicanthus inversus syndrome with congenital nasolacrimal duct obstruction and adjuvant use of dacryoendoscopy. SN - 1724-6016 UR - https://www.unboundmedicine.com/medline/citation/31752537/A_rare_association_of_blepharophimosis_ptosis_epicanthus_inversus_case_with_congenital_nasolacrimal_duct_obstruction_ L2 - https://journals.sagepub.com/doi/10.1177/1120672119886427?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -
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