Topics

CLINICAL FEATURES IN A CASE OF OCCULT MACULAR DYSTROPHY WITH RP1L1 MUTATION.

07:00 EST 10th February 2017 | BioPortfolio

Summary of "CLINICAL FEATURES IN A CASE OF OCCULT MACULAR DYSTROPHY WITH RP1L1 MUTATION."

To investigate appropriate diagnostic testing for occult macular dystrophy (OMD) in a patient with unexplained progressive visual loss.

Affiliation

Journal Details

This article was published in the following journal.

Name: Retinal cases & brief reports
ISSN: 1937-1578
Pages:

Links

DeepDyve research library

PubMed Articles [29791 Associated PubMed Articles listed on BioPortfolio]

mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy.

: To reveal the underlying genetic defect in a complex family affected with different clinical features of inherited retinal dystrophy, we carried out whole exome sequencing followed by confirmatory m...

Outer retinal alterations associated with visual outcomes in Best vitelliform macular dystrophy.

To describe outer retinal structure in Best vitelliform macular dystrophy (BVMD) patients using spectral-domain optical coherence tomography (SD-OCT) and correlate these RESULTS with best corrected vi...

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.

Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by abnormal growth of scalp hair and juvenile macular degeneration leading to blindness. We have ...

Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing.

SURGICAL MANAGEMENT OF TRAUMATIC MACULAR HOLE: Optical Coherence Tomography Features and Outcomes.

To report the outcomes of eyes receiving surgical management for traumatic macular holes. To describe the preoperative and postoperative optical coherence tomography features of traumatic macular hole...

Clinical Trials [6407 Associated Clinical Trials listed on BioPortfolio]

Photodynamic Therapy (PDT) Versus Transpupillary Thermotherapy (TTT) in Occult Choroidal Neovascularization (CNV) in Age-related Macular Degeneration (AMD)

The purpose of this study is to compare the effect of PDT and TTT for the treatment of subfoveal occult CNV in age-related macular degeneration.

Photodynamic Therapy in Occult-Only Lesions (POOL)

Age related macular degeneration is the leading cause of blindness for people over 50 in the western world. Blood vessels which start to grow form a lesion in the back of the eye. Vertepor...

Visudyne® in Occult (VIO)

The purpose of this study is to demonstrate that Visudyne therapy in patients who have occult with no classic subfoveal choroidal neovascularization (CNV) lesions will, with an acceptable ...

Clinical Study of Subretinal Transplantation of Human Embryo Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Macular Degeneration Diseases

The purpose of this study was to determine the safety and therapeutic effect of sub-retinal transplantation of human embryo stem cell derived retinal pigment epitheliums (hESC-RPE) in pati...

A Follow up Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD)

The purpose of this study is to evaluate the safety and tolerability of hESC-RPE cellular therapy in patients with advanced SMD over a five-year period following the surgical procedure to ...

Medical and Biotech [MESH] Definitions

An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Resin from wood of certain species of GUAIACUM. It is used as clinical reagent for occult blood.

A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.

A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates.

Quick Search


DeepDyve research library

Relevant Topic

Muscular Dystrophy
Muscular dystrophy is a group of degenerative inherited disorders causing muscle weakness and loss of muscle tissue. The different types are Becker muscular dystrophy, Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, Facioscapulohumeral mu...


Searches Linking to this Article