Homepage Rare diseases Search Search for a rare disease Bothnia retinal dystrophy Disease definition Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and [orpha.net]

Acronym BRD Synonyms Vasterbotten dystrophy Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

We present the clinical heterogeneity and genetic findings of seven patients from five families with RLBP1 mutations, including three novel mutations. [pubfacts.com]

In this study we identified genetic mechanisms underlying autosomal dominant and recessive RP present in northern Sweden. Several novelmutations unique for this region were found. [uthealth.influuent.utsystem.edu]

Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment Treatment Options: None has been reported. Tinted lenses can be helpful. References [disorders.eyes.arizona.edu]

To give the reader an idea of how confusing the medical diagnosis and prognosis was for sexual behavior, behaviors such as flirting, lustful glances, and wearing of perfume by women was interpreted as a mild form of nymphomania. [thebooknympho.com]

Research output : Contribution to journal › Article 2017 Choroidal thickness and visual prognosis in type 1 lesion due to neovascular age-related macular degeneration Hernández-Martínez, P., Dolz-Marco, R., Hervás-Marín, D., Andreu-Fenoll, M., Gallego-Pinazo [jhu.pure.elsevier.com]

CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology [molecularvisionlab.com]

[…] amyloidosis, Piedmont type Dominant hypophosphatemia with nephrolithiasis or osteoporosis Synonym(s): - Västerbotten dystrophy Classification (Orphanet): - Rare eye disease - Rare genetic disease Classification (ICD10): - Diseases of the eye and adnexa - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for RLBP1 Genetic Association Database (GAD) RLBP1 Human Genome Epidemiology (HuGE) Navigator RLBP1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: RLBP1 No data available for Genatlas for RLBP1 Gene Mutation of [genecards.org]

Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease [books.google.com]

Epidemiology Frequency United States The dystrophy has been reported in the United States, although the incidence in the general population is unknown. [emedicine.medscape.com]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.com]

Pathophysiology The pathogenesis remains unknown, but it is postulated to result from a localized defect of lipid metabolism. [emedicine.medscape.com]

CRALPB functions as a retinoid carrier, assisting the oxidation of 11- cis -retinol to 11- cis -retinal in the next step of the visual cycle and preventing uncontrolled storage of 11- cis -retinol by esterification ( 14 ). [pnas.org]

Authors’ Affiliations (1) Department of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Molecular Genetics and Preventive Medicine, University of Messina, via C. [humgenomics.biomedcentral.com]

It is possible that the dots were present at early stages and had progressively vanished in the course of the disease, thus preventing the correct diagnosis, as previously reported [ 60 ]. [molvis.org]