Results 91 to 100 of about 17,913 (203)
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
PLoS ONE, 2016 We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations.
Morad Ansari +52 more
doaj +1 more source
Bilateral Aniridia Lenticular Coloboma and Snowflake Retinal Degeneration
, 2009 A 6-year-old boy presented with bilateral aniridia associated with lens coloboma and snowflake retinal degeneration. Ophthalmologic examination revealed bilateral corneal peripheral epithelial thickening and aniridia.
Selim Doganay +5 more
core +1 more source
Journal of the American Medical Association, 1915 The case history here presented, together with the striking family history of heredity, is regarded of sufficient interest for publication. George McI., aged 27, was referred to my Wills Hospital service, Nov. 2, 1914. The right eye had been lost from some unknown cause in childhood and presented a shrunken stump.
openaire +2 more sources
On Aniridia in Sweden and Norway
, 2009 Introduction Aniridia (iris more or less missing), is a congenital, dominant, inherited, serious and sight-threatening disease, most often appearing as an isolated eye disorder.
Edén, Ulla
core +1 more source
, 2016 We present a case of transpupillary argon laser cyclophotocoagulation (TALC) in a patient with traumatic aniridia and aphakia secondary to blunt trauma who had previous bilateral trabeculectomy.
Umut Duygu Uzunel +2 more
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Wilms' Tumor Associated with Congenital Aniridia [PDF]
, 1976 The third case of the aniridia-Wilms' tumor complex in Japan is reporetd herein. The patient received a radical nephrectomy and survived the period of risk. A radiotherapy and six series of chemotherapy treatments have been used for adjuvant therapy.
Kiriyama, Tadao, Kamiryo, Yoriaki
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Aniridia among children and teenagers in Sweden and Norway.
, 2008 Purpose: To investigate patients under the age of 20 with aniridia in Sweden and Norway in order to estimate the prevalence of aniridia, to describe clinical signs and identify complications in the young, which will help improve diagnostic tools and ...
Edén, Ulla +6 more
core +1 more source
, 2018 PURPOSE: To clinically characterize and compare 2 types of corneal abnormalities in patients with congenital aniridia: (1) congenital central corneal opacity from birth (CCO) and (2) aniridia-associated keratopathy (AAK) that develops progressively with ...
Kim, Mee Kum +5 more
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Conceptos actuales sobre la aniridia [PDF]
El iris es una estructura esencial para el correcto desarrollo de la función visual. La ausencia parcial o total del mismo se denomina aniridia y causa fotofobia y disminución de la agudeza visual.The iris is an essential structure for the correct ...
Alonso Sampériz, Ana
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