Corneal hypoaesthesia in asymptomatic familial distichiasis.
نویسندگان
چکیده
A 3-year-old child, his mother, and his uncle were found to have asymptomatic distichiasis accompanied by corneal hypoaesthesia. Slit-lamp examination of the mother and her brother revealed normal corneas, but bilateral punctate epithelial staining was found in the child. In addition the child suffered from corneal erosion in his left eye due to decreased tear secretion after left occipital craniotomy and C1 laminectomy.
منابع مشابه
A novel missense mutation and two microrearrangements in the FOXC2 gene of three families with lymphedema-distichiasis syndrome.
Lymphedema-distichiasis (LD) syndrome is a rare autosomal dominant disorder of the FOXC2 gene, which codes for a forkhead transcription factor. Most of the mutations described in this gene to date are deletions or insertions, suggesting a mechanism of haploinsufficiency. We studied three independent families with LD presenting with both lymphedema and distichiasis. Two microrearrangements (one ...
متن کاملA Novel Mutation in the FOXC2 Gene: A Heterozygous Insertion of Adenosine (c.867insA) in a Family with Lymphoedema of Lower Limbs without Distichiasis
BACKGROUND Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset. PATIENTS AND METHODS Subjects from three gener...
متن کاملFOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst
Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. However, FOXC2 mutation an...
متن کاملCrystalline Subtype of Pre-Descemetic Corneal Dystrophy
PURPOSE To report corneal findings in a familial case of the crystalline subtype of pre-Descemetic corneal dystrophy. CASE REPORT A 19-year-old girl and her 44-year-old mother were found to have asymptomatic, bilateral, punctiform and multi-colored crystalline opacities across the whole posterior layer of the corneas. Endothelial specular microscopy revealed the presence of white round flecks...
متن کاملClinical Findings and Review of Posterior Polymorphous Corneal Dystrophy
The purpose of present study is to discuss the clinical findings and management options of posterior polymorphous corneal dystrophy and to review the current literature on this rare entity. We report a case of asymptomatic posterior polymorphous corneal dystrophy. Posterior polymorphous corneal dystrophy is a rare, familial clinical entity with subtle findings that are important to recognize, a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 70 2 شماره
صفحات -
تاریخ انتشار 1986