Congenital Tarsal Kink Syndrome: Literature Review and Case Report.

BACKGROUND: The congenital tarsal kink syndrome is a rare form of congenital upper eyelid entropion associated with cardiovascular, musculoskeletal or central nervous system disorders. This syndrome must be recognized and surgically treated as a perinatal emergency to avoid associated complications-corneal ulcer, corneal leucoma, secondary amblyopia and decreased vision among children. METHODS: A literature review was conducted to clarify the diagnosis particularities and the corrective surgery options of the congenital entropion on the upper eyelid. RESULTS: Four relevant studies were found by researching the Web of Science and PubMed databases up to November 2021 for "congenital tarsal kink syndrome" and "congenital upper eyelid entropion". CONCLUSIONS: In this paper, we present a case of congenital unilateral entropion of the upper left eyelid in the context of a tarsal kink syndrome in a one-month old infant, manifested by the absence of eyelashes on the upper eyelid of the left eye, hyperlacrimation and conjunctival hyperemia. Essential in managing the upper eyelid entropion is protecting the cornea. Furthermore, correcting a tarsal kink is eminently surgical, choosing between open or closed procedures. Herein, we address the difficulty in the timely diagnosis of this uncommon condition and make formal recommendations based on all reported cases.

Goldenhar Syndrome - ophthalmologist's perspective.

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia, OAVS) is a rare, congenital disease arising from the abnormal development of the first and second branchial arches. The incidence is between 1:3500 and 1:5600, with a male: female ratio of 3:2. The etiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknown aspects. The classic features of Goldenhar syndrome include ocular anomalies - epibulbar dermoids, microphthalmia and coloboma, ENT features such as preauricular tragi, hearing loss, low implantation of the auricular pavilion, micrognathia, and vertebral anomalies such as scoliosis or hemivertebrae. The abnormalities are unilateral in 85% of the cases. Ocular features, especially bilateral dermoids are seen in 60% of the cases. The treatment varies with age and systemic associations, from mainly cosmetic, in uncomplicated cases, to complex reconstructive surgeries in severe cases. While the oculoplastic surgeon manages the oculo-palpebral defects, severe forms require a multidisciplinary approach. Treatment should be individualized, adapted to age, as well as to the extent and severity of the disease. The paper is based on the editorial team cases and experience.