Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test,...

purpose: to evaluate changes in tear condition following unilateral ptosis surgery. methods: in this case series all patients with unilateral ptosis who underwent ptosis surgery over a two-year period were studied. the patients did not have history of previous eye surgery or other eye problems. eyelid and lacrimal evaluation included schirmer’s test with and without anesthesia and tear break up...

BACKGROUND Congenital fibiosis of the extraocular muscles (CFEOMI) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a classic CFEOMI family. METHODS Ten members of a fifteen-member, three-generation Italian family affected by classic CFEOM participated in t...

Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system is an essential component for the development and maintenance of eye co...

OBJECTIVE To describe a new method of frontalis suspension (FS) to prevent recurrences, undercorrection, and cosmetic problems, and to share our experiences in treatment of congenital ptosis using the trapezoid quadrilateral technique (TQT) and synthetic materials. METHODS Twenty-four eyes of 18 patients, admitted to Ankara Numune Training and Research Hospital 3rd Eye Clinic, Ankara, Turkey,...

Horner syndrome is a combination of clinical signs, classically of ipsilateral ptosis, pupillary miosis and facial anhydrosis, secondary to the interruption of the oculosympathetic pathway. The causes include tumour infiltration, compression by a lesion such as an aneurysm, iatrogenic causes and traumatic injuries. This paper presents a case of Horner Syndrome due to a rare cause, a congenital ...

ALTHOUGH a very rare condition, a case of congenital eversion of the upper eyelids has recently been ieported from America by Ostriker and Lasky (1954) and Hopen (1955). I have not been able to find any case report in the British literature over the last 20 years. Mann (1937) mentions that congenital entropion and ectropion of the lids are extremely rare. DukeElder (1952) mentions that the lid ...

Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American (NAM), is a condition caused by biallelic missense pathogenic variants in STAC3, which encodes an important protein necessary for the excitation-relaxation coupling machinery muscle. Patients with STAC3 often present weakness arthrogryposis, cleft palate, ptosis, myopathic facies, sho...