Congenital Ptosis Repair by Preserved Fascia Lata with Direct Tarsal and Frontalis Fixation

PURPOSE: To investigate the outcome of frontalis suspension surgery congenital blepharoptosis with poor levator palpebral muscle function using preserved fascia lata with direct tarsal and frontalis fixation method. METHODS: Twelve congenital ptosis patients (fourteen eyes) who underwent frontalis suspension using preserved fascia lata with direct tarsal and frontalis fixation method between July 1999 and June 2002 with the mean follow-up time of 54.8 months (31 months~78 months) included. And the postoperative results were obtained from medical records retrospectively. RESULTS: The desired lid height was achieved in eight out of twelve patients (71.4%) after surgery. In four patients (4 eyes) (28.6%), adjustment was required due to under-correction within one month postoperatively. At a mean follow-up period of 54.8 months, all twelve patients had good final results with no postoperative complications. CONCLUSIONS: Frontalis suspension using preserved fascia lata with direct tarsal and frontalis fixation method provided cosmetically pleasing results with a low rate of ptosis recurrence and complication related to procedures. This method using preserved facia lata could be considered as alternative to the use of autogenous facia lata for the repair of ptosis.

Congenital Ptosis Repair by Preserved Fascia Lata with Direct Tarsal and Frontalis Fixation

PURPOSE: To investigate the outcome of frontalis suspension surgery congenital blepharoptosis with poor levator palpebral muscle function using preserved fascia lata with direct tarsal and frontalis fixation method. METHODS: Twelve congenital ptosis patients (fourteen eyes) who underwent frontalis suspension using preserved fascia lata with direct tarsal and frontalis fixation method between July 1999 and June 2002 with the mean follow-up time of 54.8 months (31 months~78 months) included. And the postoperative results were obtained from medical records retrospectively. RESULTS: The desired lid height was achieved in eight out of twelve patients (71.4%) after surgery. In four patients (4 eyes) (28.6%), adjustment was required due to under-correction within one month postoperatively. At a mean follow-up period of 54.8 months, all twelve patients had good final results with no postoperative complications. CONCLUSIONS: Frontalis suspension using preserved fascia lata with direct tarsal and frontalis fixation method provided cosmetically pleasing results with a low rate of ptosis recurrence and complication related to procedures. This method using preserved facia lata could be considered as alternative to the use of autogenous facia lata for the repair of ptosis.

A Case of Klippel-Feil Syndrome combined with Duane Retraction Syndrome: Incomplete Form of Wildervanck Syndrome

PURPOSE: Klippel-Feil syndrome is defined as the congenital fusion of two or more cervical vertebrae. The clinical features are low posterior hair line, short neck, and limitation of the movement of the head and neck. Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by Klippel-Feil syndrome, Duane syndrome and hearing impairment at birth, although one of these symptoms may be lacking. This report describes a case of Klippel-Feil syndrome combined with Duane retraction syndrome, which can be defined as an incomplete form of Wildervanck syndrome. METHODS: A 15-year-old girl with congenitally fused cervical vertebrae at two levels, C2-C4 vertebrae and, C5-C7 vertebrae, was diagnosed as Klippel-Feil syndrome. Ophthalmologic evaluation was needed due to abnormality in ocular motility. RESULTS: Ophthalmologic examination revealed a visual acuity of 0.9 without correction in both eyes. Slit-lamp and fundus examination were normal. Ocular motility examination showed 14 prism diopters right esotropia in primary gaze, limited abduction, globe retraction, and narrowing of the palpebral fissure on adduction of the right eye.

Three Cases of Waardenburg Syndrome Type 2 in a Korean Family

Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances of the skin, hair, and iris, and other developmental defects such as lateral displacement of both medial canthi and lacrimal puncta called dystopia canthorum. While mutations of the PAX3 (paired box) gene have been identified in about 99% of WS type 1 cases, WS type 2 is a heterogeneous group, with about 15% of cases caused by mutations in microphthalmia associated transcription factor (MITF). We have experienced three cases of typical WS type 2 in a Korean family, for whom full ocular examination and genetic studies were performed. The genetic studies revealed no mutation in either PAX3 or MITF genes. The genetic basis, as yet unknown for most cases of WS type 2, might be found with further investigation.