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]

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

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]

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]

• Anemia

  cblG complementation type; folate-sensitive neural tube defects AR 31 MTRR 602568 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects AR 18 MUT 609058 complete deficiency of methylmalonyl-CoA mutase AR [centogene.com]

  Bardet-Biedl syndrome 11615988 TRNT1Retinitis pigmentosa and erythrocytic microcytosis,616959 TRNT1Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay,616084 TRPM1Night blindness, congenital stationary (complete [qgenomics.com]

  Cone dystrophy 3/Cone rod dystrophy GUCA1B dominant retinitis pigmentosa; dominant macular dystrophy GUCY2D Cone rod dystrophy, Leber congenital amaurosis HARS Usher syndrome HCN1 Cone rod dystrophy HGSNAT recessive retinitis pigmentosa HK1 Hemolytic anemia [molecularvisionlab.com]

  Retinitis pigmentosa DHDDS Retinitis pigmentosa EYS Retitinis pigmentosa FAM161A Retitinis pigmentosa FLVCR1 Ataxia, posterior column, with retinitis pigmentosa GNPTG Mucolipidosis GUCY2D Cone rod dystrophy, Leber congenital amaurosis HK1 Hemolytic anemia [genda.com.ar]

• Lymphedema

  […] and cataracts,613730 KCNJ13Leber congenital amaurosis 16614186 KCNJ13Snowflake vitreoretinal degeneration,193230 KCNV2Retinal cone dystrophy 3B,610356 KERACornea plana congenita, recessive,217300 KIF11Microcephaly with or without chorioretinopathy, lymphedema [qgenomics.com]

• Vomiting

  Affected children exhibit anorexia, failure to thrive, hypotonia, and developmental delay, and sometimes have protein aversion and/or vomiting and lethargy after protein intake. [centogene.com]

• Night Blindness

  Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. [malacards.org]

  blindness, congenital stationary GNAT2 Achromatopsia GPR98 recessive Usher syndrome GPR125 recessive retinitis pigmentosa GPR179 Night blindness, congenital stationary GRK1 Oguchi disease GRM6 Night blindness, congenital stationary GRN Neuronal Ceroid [molecularvisionlab.com]

  congenital stationary GPR179 Night blindness, congenital stationary GRK1 Oguchi disease GRM6 Night blindness, congenital stationary LRIT3 Night blindness, congenital stationary NYX Night blindness, congenital stationary PDE6B Night blindness, congenital [genda.com.ar]

  Skip to content Bothnia retinal dystrophy Joe Segen 2016-11-24T21:59:35+00:00 OPHTHALMOLOGY A n autosomal recessive form (OMIM:607475) of night blindness of early childhood onset with changes of retinitis punctata albescens, followed by macular degeneration [newmedicalterms.com]

• Visual Impairment

  Please include fundus photographs, electroretinogram (ERG) findings, visual field findings and visual acuity, if available, for expert review and clinical correlation with test results Subpanel description This comprehensive panel includes genes from [blueprintgenetics.com]

• Visual Impairment

  Please include fundus photographs, electroretinogram (ERG) findings, visual field findings and visual acuity, if available, for expert review and clinical correlation with test results Subpanel description This comprehensive panel includes genes from [blueprintgenetics.com]

• Spastic Quadriplegia

  quadriplegia, and mental retardation, Spinocerebellar ataxia, Stargardt disease EYS Retitinis pigmentosa FAM161A Retitinis pigmentosa FBLN5 Cutis laxa, Macular degeneration, age-related FLVCR1 Ataxia, posterior column, with retinitis pigmentosa FRMD7 [genda.com.ar]

  quadriplegia, and mental retardation, Spinocerebellar ataxia EMC1 recessive retinitis pigmentosa EYS Retitinis pigmentosa FAM161A Retitinis pigmentosa FLVCR1 Ataxia, posterior column, with retinitis pigmentosa FSCN2 dominant retinitis pigmentosa; dominant [molecularvisionlab.com]

  quadriplegia, and mental retardation, Spinocerebellar ataxia AD/AR 13 14 EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation AR 3 7 EYS * Retinitis pigmentosa AR 97 321 FAM161A Retinitis pigmentosa AR 14 20 FLVCR1 Ataxia, posterior [blueprintgenetics.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]

Keywords: epidemiology; incidence; multiple sclerosis; prevalence. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. [pubmed.ncbi.nlm.nih.gov]

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]