Goldmann-Favre Syndrome: Case Series

نویسندگان

  • Serdar Özateş
  • Kemal Tekin
  • Mehmet Yasin Teke
چکیده

Goldmann-Favre syndrome, which is caused by mutation of the NR2E3 gene, is a retinal degenerative disease with a wide spectrum of phenotypic properties. Variations in clinical presentation result in difficulties in differential diagnosis. In this article, Goldmann-Favre syndrome cases with different clinical findings are presented. Clinical characteristics of our cases were reviewed and discussed in light of the literature.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Morphological and Functional Correlates in Goldmann-Favre Syndrome: A Case Series

The purpose of this study is to describe the correlation of findings between results from spectral domain optical coherence tomography (SD-OCT) and microperimetry in a case series regarding patients with Goldmann-Favre syndrome. Goldmann-Favre syndrome is a rare autosomal recessive hereditary vitreo-retinal degeneration that impacts the functionality of vision in subjects. Three men with this c...

متن کامل

Diagnostic features of the Favre-Goldmann syndrome.

Extensive retinal vascular disease was noted in three patients from two families with Favre-Goldmann syndrome. In addition to classical features they had pronounced leakage from some retinal vessels. Vessels were either opaque ('sclerotic') or non-perfused. Cystoid macular oedema was a contributing cause of decreased vision. Two of the three patients showed a discrepancy on electroretinography ...

متن کامل

Developmental or degenerative – NR2E3 gene mutations in two patients with enhanced S cone syndrome

PURPOSE Enhanced S Cone Syndrome is a rare autosomal recessive disorder characterized clinically by an absence of rod function, a replacement of most L and M cone function by S cone activity (Goldmann-Favre Syndrome) and by variable degrees of retinal degeneration in different families. The causative gene, nuclear receptor subfamily 2, group E, member 3 (NR2E3), controls the developmental seque...

متن کامل

Phenotypic features of patients with NR2E3 mutations.

OBJECTIVE To describe the phenotypes of 5 patients with NR2E3 mutations. METHODS Two patients with familial and 3 with sporadic early-onset nyctalopia and retinal pigment abnormalities were screened for mutations in the NR2E3 gene (OMIM 604485). The clinical course, fundus features, visual field test results, and fluorescein angiographic and electrophysiologic findings were compared. RESULT...

متن کامل

A comparison between rebound and Goldmann's tonometers in screening of patients for glaucoma.

Goldmann applanation tonometer (GAT) has been the gold standard for intraocular pressure (IOP) measurement for over five decades. However, the last few years have seen lots of research in an effort to develop the ultimate tonometer. One of the outcomes of that effort is the rebound tonometer (RBT) (Icare; Tiolat Oy, Helsinki, Finland), which has appeared in clinical practice after extensive res...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره 48  شماره 

صفحات  -

تاریخ انتشار 2018