Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.

INTRODUCTION: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disorder characterized by complex orbito-palpebral anomalies. We report a rare case of BPES associated with bilateral congenital cataract. OBSERVATION: This study reports the case of a 6-month-old infant with BPES in whom a bilateral congenital cataract was diagnosed, after the parents noticed leukocoria and signs of poor vision in their child. No other ophthalmologic manifestations commonly associated with this syndrome were found. The infant underwent cataract surgery first, with lens phacoaspiration and posterior capsulotomy coupled with anterior vitrectomy and placement of a 3-piece foldable hydrophobic posterior chamber lens in the capsular bag. The surgery was a real challenge due to the orbito-palpebral anomalies that limited a small surgical space, and the placement of the IOL was a matter of discussion. DISCUSSION: Publications on the association of congenital cataract with BPES are very rare. The link between these two anomalies is difficult to establish since different genes on different chromosomes code for the two diseases. A lateral canthotomy can be considered to overcome the surgical difficulties due to the reduced working space. The surgical management of pediatric cataract varies in the literature. CONCLUSION: This case highlights the difficulty of cataract surgery in children, even more so when associated with BPES, and the challenge of improving vision in these children given the high risk of amblyopia.

Spontaneous corneal perforation complicating ocular rosacea: Case report.

INTRODUCTION: Ocular rosacea is a multifactorial disease. Its pathophysiology remains unclear. The ocular manifestations of rosacea are not specific and can range from simple blepharoconjunctivitis to sight-threatening such as corneal perforation. CASE REPORT: We report the case of a 10-year-old child who presented with a red painful right eye. Based on the clinical findings, we concluded that she had a corneal perforation on ocular rosacea. She benefited from an ipsilateral lamellar autokeratoplasty by lamellar autograft. The evolution was marked by a good healing and a good visual recovery despite a corneal scar. DISCUSSION: Ocular rosacea is a multifactorial disease, with an unclear physiopathology. Corneal involvement remains the least common, but the most challenging since serious complications can occur. Corneal perforation is the most severe. Several techniques have been reported and used in the management of corneal perforations such as conjunctival flap, amniotic membrane grafting, and the use of a corneal patch. The later, corneal autografting, remains a simple and effective technique with satisfactory anatomical results. CONCLUSION: Ocular rosacea is a pathology that is still poorly understood and of delayed diagnosis. It can lead to serious vision-threatening complications such as corneal perforation. The corneal patch is a simple, effective and efficient technique that has given good results in our case.