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]

Ten patients were heterozygous for the R234W mutation, and presented a similar phenotype. No additional mutations in the coding sequence or exon-intron junctions were found. [umu.diva-portal.org]

The amount present at t 0 is a 0; the amount present after illumination is a. For a first-order decay process, a a 0 e kt. [pnas.org]

• Thrombosis

  […] diseases among South Asians in the United Kingdom 179 Management of inherited metabolic diseases in India 205 Indian childhood cirrhosis and other metabolic liver diseases 221 Thalassaemias and other haemoglobinopathies 243 Disorders of haemostasis and thrombosis [books.google.com]

• Visual Impairment

  impairment, and psychomotor retardation AR 3 7 EYS * Retinitis pigmentosa AR 97 321 FAM161A Retinitis pigmentosa AR 14 20 FLVCR1 Ataxia, posterior column, with retinitis pigmentosa AR 9 15 FRMD7 Nystagmus, infantile periodic alternating XL 15 95 FZD4 [blueprintgenetics.com]

• Nephrolithiasis

  […] hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Dominant hypophosphatemia with nephrolithiasis [csbg.cnb.csic.es]

• HLA-A2

  Structure of the human class I histocompatibility antigen, HLA-A2. ‏ الصفحة 438 - Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. ‏ [books.google.com]

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]

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]

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]

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]

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]

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]