ABSTRACT
PURPOSE: To describe a rare case of blepharochalasis that progressed from unilateral to bilateral involvement at five years after disease onset. CASE REPORT: A previously healthy five-year-old white boy presented to our hospital for a screening visual examination. He was found to have a 2-mm right eyelid ptosis with crepe-like skin and subcutaneous telangiectatic vessels. His mother noted that since the age of three, the child has been having two to seven day-long episodes of right upper eyelid swelling and edema with tenderness. The episodes eventually progressed to involving the left eyelid as well. Oral steroid taper was found to effectively resolve these exacerbations, and a diagnosis of blepharochalasis was made. CONCLUSION: Blepharochalasis should be in the differential diagnosis for young children presenting with unilateral or bilateral ptosis with periorbital skin abnormalities.
ABSTRACT
A 2-day-old Hispanic boy was transferred to us with concerns of a small left eye. The pregnancy was uncomplicated, and both parents are healthy. Examination showed a left orbit that appeared to be empty with conjunctival tissue. The right eye had a 7 mm clear cornea, and retinal exam showed areas of thin or absent tissue and no visible optic nerve. MRI revealed a hypoplastic left orbit with an orbital cyst. The anterior-posterior diameter of the right globe was 14 mm and the left globe was 4 mm. Genetic microanalysis showed genetic abnormalities (845 kb gain) on chromosome 14 at q32.33. A diagnosis of bilateral microphthalmia with an orbital cyst was made. This is an isolated case of bilateral microphthalmia possibly associated with 14q32-33.