tuberous sclerosis complex (tsc) is an autosomal-dominant hereditary disorder. this syndrome is characterized by tumor-like malformations in several organs, as well as the heart. this report summarizes a case of tsc in a premature infant, born at 34 weeks' gestation with ascites. after birth, multiple cardiac mass, subependymal cysts and hypopigmented macules were detected. to our knowledge, th...

photocoagulation at birth prevents blindness in Norr ie ’ s d i sease d iagnosed us ing amniocentesis. Ophthalmology. 2010;117(12): 2402-2406. 7. Jacobs DJ, Bielory BP, Berrocal AM. Peripheral retinal avascularity in persistent fetal vasculature. Paper presented at: Association for Research in Vision and Ophthalmology Annual Meeting; May 4, 2011; Fort Lauderdale, Florida. 8. Kumar A, Jethani J,...

BACKGROUND Phylloid hypomelanosis is a rare neurocutaneous syndrome characterized by a pattern of hypopigmentation consisting of leaflike or oblong macules reminiscent of floral ornaments. Associated extracutaneous anomalies include cerebral, ocular, and skeletal defects. Recently it has been suggested that this phenotype originates from mosaic partial or complete trisomy 13. We report clinical...

Ota's nevus is mongolian spot-like macular blue-black or gray-brown patchy pigmentation that most commonly occurs in areas innervated by the first and second division of the trigeminal nerve. Acquired, bilateral nevus of Ota-like macules (ABNOM) is located bilaterally on the face, appears later in life, is blue-brown or slate-gray in color. It is not accompanied by macules on the ocular and muc...