Retinal dystrophy in 2 brothers with α-Mannosidosis.

نویسندگان

  • Robert Jackson Courtney
  • Mark E Pennesi
چکیده

OU, a failed corneal graft with corneal thinning and an epithelial defect in the right eye, and severe corneal thinning with a corneal perforation in the left eye. The corneal perforation in the left eye was managed with cyanoacrylate glue and a bandage contact lens. The patient was malnourished because of her social situation and psychiatric deterioration, with a vitamin A level of 5 μg/dL. After improving nutritional intake, both eyes improved, with resolution of the epithelial defect in the right eye and stabilization of the perforation in the left eye. She was discharged with recommendations to continue oral vitamin A supplementation.

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

Cone dystrophies with negative photopic electroretinogram.

A scotopic electroretinogram with an a-wave amplitude larger than the b-wave amplitude traditionally is termed 'negative'. Six male patients with negative photopic electroretinograms were examined; three of them suffered from progressive cone dystrophy, in which negative electroretinograms are unusual. Another patient without symptoms was the brother of a patient with cone dystrophy. These pati...

متن کامل

Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome

Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family.   Case Report: The...

متن کامل

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.

The dystroglycanopathies comprise a clinically and genetically heterogeneous group of muscular dystrophies characterized by deficient glycosylation of alpha-dystroglycan. Mutations in the fukutin (FKTN) gene have primarily been identified among patients with classic Fukuyama congenital muscular dystrophy (FCMD), a severe form of dystroglycanopathy characterized by CMD, cobblestone lissencephaly...

متن کامل

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.

OBJECTIVE To report discordant phenotypes, resulting from the same mutation in exon ORF15 (GenBank AF286472) of the retinitis pigmentosa GTPase regulator gene (RPGR) (GenBank U57629), in 2 presumed dizygotic twin brothers with X-linked retinal disease. METHODS The 2 brothers underwent complete ophthalmic examination that included best-corrected visual acuity, slitlamp biomicroscopy, and detai...

متن کامل

Bietti ' s tapetoretinal degeneration with marginal corneal dystrophy ( crystalline retinopathy ) : case report

A tapetoretinal degeneration combined with a marginal corneal dystrophy was described by Bietti in three patients (two of whom were brothers) in 1937.' The fundus picture was reported to be similar to that of retinitis punctata albescens, but the spots, located mainly at the posterior pole, were refractile, polygonal, and could be seen at all levels of the neuroretina. Pigment changes were seen...

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:
  • Archives of ophthalmology

دوره 129 6  شماره 

صفحات  -

تاریخ انتشار 2011