Abstract

Cases of congenital ptosis are rare, let alone bilateral and occurring in twins. There are many diagnostic dilemmas, often needing genetic testing and advanced imaging such as magnetic resonance imaging.This case report will look at the case of a twin with this interesting feature who are presented to a primary care clinic. It will center around how the diagnosis of congenital fibrosis of extraocular muscles was reached and what management options are available for this twin.International Journal of Human and Health Sciences Vol. 04 No. 02 April’20 Page : 142-144

Highlights

  • The incidence of congenital ptosis worldwide is unknown; only 30% of the cases involve both eyes.1Causes of congenital ptosis can be divided into ptosis that occurs in isolation and ptosis associated with other ocular findings or systemic disorders.[2]Examples include blepharophimosis-ptosisepicanthus inversus syndrome (BPES), congenital fibrosis of extra-ocular muscles, Horner’s syndrome,congenitalmyasthenic syndrome, Marcus Gunn jaw winking, third cranial nerve palsy and upper eyelid mass.[2]

  • The parents denied any visual problems such as reflective errors, strabismus or abnormal head posture. Both children had been diagnosed as having congenital fibrosis of extraocular muscles (CFEOM) by the pediatrics and ophthalmology team

  • The role of primary care here is to continue seeing the patients for these types of cases and at the same time to look for ophthalmic complications such as worsening visual problems, amblyopia, dry eyes and musculoskeletal complications due to abnormal head posture to compensate for the ptosis or amblyopia.[3]

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Summary

Introduction

The incidence of congenital ptosis worldwide is unknown; only 30% of the cases involve both eyes.1Causes of congenital ptosis can be divided into ptosis that occurs in isolation (simple ptosis) and ptosis associated with other ocular findings or systemic disorders.[2]. The ptosis was present at birth but only noted by the parents at one month of life During this presentation, the parents denied any visual problems such as reflective errors, strabismus or abnormal head posture. The parents denied any visual problems such as reflective errors, strabismus or abnormal head posture Both children had been diagnosed as having congenital fibrosis of extraocular muscles (CFEOM) by the pediatrics and ophthalmology team. This was based on the clinical presentation. The parents were reassured on this eye condition They were advised, if the twins complained of any visual abnormality, they should be brought urgently to the ophthalmologists or primary care physicians for further assessment

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