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| http://dx.doi.org/10.1007/s00467-016-3515-1 | DOI Listing |
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Duane Retraction Syndrome: A Report of Two Cases and Review of Literature.
Cureus
November 2024
Department of Ophthalmology, College of Medicine, University of Bisha, Bisha, SAU.
Stilling-Duane syndrome, a congenital condition characterized by aberrant innervation of the lateral rectus muscle and agenesis of the abducent nerve or its nucleus, results in limited horizontal eye movements. It is often misdiagnosed as acquired abducent nerve paralysis. This report highlights the importance of considering Stilling-Duane syndrome in differential diagnoses.
View Article and Find Full Text PDFUnraveling ptosis: a comprehensive review of clinical manifestations, genetics, and treatment.
Prog Retin Eye Res
December 2024
Health Management Center, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Disease Genome Research Center, Central South University, Changsha 410013, China. Electronic address:
Ptosis is defined as an abnormally low-lying upper eyelid margin on the primary gaze, generally resulting from a congenital or acquired abnormality of the nerves or muscles that control the eyelid. Ptosis can occur alone or concurrently as an ocular or systemic syndrome, and the prevalence of ptosis varies among different countries and populations. Isolated ptosis typically causes aesthetic problems in patients and can lead to functional ophthalmic problems in severe cases.
View Article and Find Full Text PDFOcular and Systemic Abnormalities in Punctal Agenesis.
Ophthalmic Plast Reconstr Surg
October 2024
Division of Ophthalmology, Children's Hospital of Philadelphia.
Background: Punctal agenesis (PA) is a rare congenital anomaly that can occur in isolation or as part of an underlying syndrome. The benefit of genetic assessment in individuals with PA and clinical features that should prompt molecular workup has not been systematically studied. The aim of this study was to identify ocular and extraocular features associated with PA and determine its association with an underlying syndrome.
View Article and Find Full Text PDFOculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.
Ophthalmic Plast Reconstr Surg
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Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, U.S.A.
Kabuki syndrome is a rare genetic disease with multisystemic effects including ocular manifestations. The authors report a patient with known Kabuki syndrome who presented with bilateral euryblepharon, bilateral ptosis, OD hypotropia, and blue sclera. A bilateral lateral tarsal strip procedure was performed followed by a left frontalis sling with a silicone implant and a right external levator advancement with success.
View Article and Find Full Text PDFA Novel Surgical Technique Involving Bone Fixation Canthoplasty, Middle Lamellar Recession and Mucograft Spacer in Treating Patients with Euryblepharon.
Ophthalmic Plast Reconstr Surg
December 2024
Adnexal Department, Moorfields Eye Hospital, NHS Foundation Trust, London, United Kingdom.
Purpose: Euryblepharon is a rare congenital eyelid malformation characterized by symmetrical horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension. The lateral canthus is most commonly affected.
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