Congenital eyelid colobomas are a partial or total absence of eyelid structures. The degree of severity determines the surgical techniques employed for repairing the eyelid. We feel that early surgical treatment reduces the risk of ocular scarring with satisfactory results. We present four cases of congenital upper eyelid colobomas of differing severity and discuss surgical approaches to these lid abnormalities.
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J Pediatr Ophthalmol Strabismus
January 2025
Congenital eyelid imbrication syndrome is rare and ranges from mild overriding of the upper eyelid on the lower eyelid to manually irreversible total upper eyelid eversion. The authors report two cases. One resolved with temporary tarsorraphies.
View Article and Find Full Text PDFOrbit
January 2025
Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
Ablepharon macrostomia syndrome is a rare congenital disorder caused by autosomal-dominant mutations. This condition is characterized by redundant skin, low-set ears, macrostomia, ambiguous genitalia, and underdevelopment of the both upper and lower eyelids. The shortening of the anterior lamella, septum and levator aponeurosis lead to a severe corneal exposure within the first hours of life.
View Article and Find Full Text PDFCureus
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 PDFProg 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 PDFOphthalmic 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.
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