PPT-OCULAR ALBINISM AS A DIFFERENTIAL DIAGNOSIS FOR CONGENITAL NYSTAGMUS AND NORMAL PIGMENTATION

Camillo C Gusmão Arthur Favarato Gustavo Pazeto Roberto dos Reis Guilherme Valadares Vicente H de Fernandes Maurício A Nascimento Michel Berezovsky DEPARTMENT OF OPHTHALMOLOGY OF THE UNIVERSIDADE ESTADUAL DE CAMPINAS UNICAMP SÃO PAULO BRAZIL. Peo ple with albinism have absent or reduced pigment in their eyes skin or hair T hey have inherited genes that do not make the usual amounts of a pigment called melanin which is essential for the full development of the retina Lack of mela nin in d MANAGEMENT OF NYSTAGMUS. From. Dr.Shashank. . Ranade. DNB, DO, DOMS,FCPS,FICO(UK). Fellow, Pediatric Ophthalmology, Strabismus & Ocular motility disorders . [International Guest Speaker, UK]. and FRMD7. Kristen Klimo. http://klimogen677s12.weebly.com/. Congenital. Late-onset. Disease associated. 1.9/1000 people worldwide. What is Nystagmus?. http://www.fraternalorderofmoai.org/huimalu/viewtopic.php?f=9&t=13034. U.S. Public Health Service. John A. Logan College. Objectives. 1. . Ask correct questions and utilize the history of the patient’s oral disease process as the first step in gathering information.. 2. Learn to evaluate characteristic appearances of oral lesions during the clinical examination.. Mrs. . Amany. Ahmed . Niazy. Opto. 435. Lecture . . 2. . Eyeball. The eyeball lies in a pyramid-shaped bony cavity called . orbit. . . Each eyeball is suspended by extra ocular muscles. . A pad of fat lies behind the eyeball to provide a protective cushion. . Making melanin pigment. The . TYR. gene is just one of many genes on the human number-11 chromosome. . The . TYR. gene encodes a protein that functions as the enzyme, . tyrosinase. . This enzyme catalyses a step in the pathway that produces the pigment, . Alison Freeman, MD, MPH. Primary Care Conference. January 5, 2012. Case 1. 61 . yo. M with no . signif. . PMHx. (although hasn’t been to MD in >10 yrs), presents w/ 3-4 years of watery diarrhea, now worse for last 1 mos. Endorses 12-14 BMs, fairly large volume, daily. Denies . Alison Freeman, MD, MPH. Primary Care Conference. January 5, 2012. Case 1. 61 . yo. M with no . signif. . PMHx. (although hasn’t been to MD in >10 yrs), presents w/ 3-4 years of watery diarrhea, now worse for last 1 mos. Endorses 12-14 BMs, fairly large volume, daily. Denies . Beng . Fuh, MD. Assistant . Professor of Pediatrics. Pediatric Hematology/oncology. East Carolina University. No . relevant financial relationships with the manufacturer(s) of any commercial products and/or provider(s) of services discussed in this CME activity. . Flaum Eye Institute. Purpose. You will develop a useful evaluation and treatment algorithm for pediatric nystagmus.. Objectives. By the end of the lesson, you will be able to:. List 3 types of nystagmus with normal vision and no neurologic disease. Definition. . Nystagmus. is an involuntary rhythmic shaking or wobbling of the eyes. The term . nystagmus. is derived from the Greek word ‘. nystagmos. ’ which was used to describe the wobbly head movements of a sleepy individual. . Panneerselvam. , Baylor College of Medicine . Subahari Raviskanthan MBBS, Houston Methodist Hospital. Andrew G. Lee MD, Houston Methodist Hospital. 82-Year-Old Man with Nystagmus. Presents to Ophthalmology clinic. Practical guide to diagnosis of ocular disorders with chapters organsied by regions of the eye, and symptons for common and uncommon diseases. Amany. Ahmed . Niazy. Opto. 435. Lecture . . 2. . Eyeball. The eyeball lies in a pyramid-shaped bony cavity called . orbit. . . Each eyeball is suspended by extra ocular muscles. . A pad of fat lies behind the eyeball to provide a protective cushion. .