Presentation
To present a long-term follow-up of Bietti crystalline dystrophy. [ncbi.nlm.nih.gov]
[…] crystalline corneoretinal dystrophy Bietti crystalline retinopathy Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: - ICD-10: H15.5 OMIM: 210370 UMLS: C1859486 MeSH: C535440 GARD: 10050 MedDRA: - The documents contained in this web site are presented [orpha.net]
Eyes
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Visual Field Constriction
Bietti crystalline dystrophy: A genetic eye disease that leads to progressive night blindness and visual field constriction and is characterized by the formation of crystals in the cornea (the clear covering of the eye), yellow shiny deposits on the retina [rxlist.com]
This tends to lead to progressive night blindness and visual field constriction. Bietti's crystalline dystrophy has an autosomal recessive pattern of inheritance. [wikidoc.org]
This tends to lead to progressive night blindness and visual field constriction. BCD is a rare disease and appears to be more common in people with Asian ancestry. [nei.nih.gov]
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Photopsia
As the disease progresses, symptoms of BCD resemble RP, including reduced visual acuity, nyctalopia, floaters, photopsia, color vision impairment, and visual field constriction. [journals.lww.com]
Neurologic
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Responsiveness Decreasing
Then, he had a generalized disturbance of the retinal pigment epithelium by fluorescein angiography, normal color vision, normal electroretinogram scotopic responses, decreased photopic amplitudes, subnormal dark adaptation, abnormal electrooculogram, [ncbi.nlm.nih.gov]
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Irritability
We hypothesize that the chronic irritation of Bruch’s membrane by the crystals may have resulted in CNV in these patients; the contributing gene for this is yet to be identified. [molvis.org]
Workup
Serum
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Lymphocytopenia
[…] deletion Osteogenesis imperfecta type VI Brachydactyly preaxial with hallux varus and thumb abduction Floating-Harbor syndrome Limb deficiencies distal with micrognathia Kohlschutter Tonz syndrome Pontocerebellar hypoplasia type 2 Idiopathic CD4 positive T-lymphocytopenia [checkrare.com]
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Dyslipidemia
BCD-associated ocular crystals therefore remains unclear. 54 Recently, a Cyp4v3 (the murine ortholog to human CYP4V2 ) knockout mouse was created. 56 The Cyp4v3 / mouse recapitulates the characteristic features of corneoretinal crystal accumulation and systemic dyslipidemia [journals.lww.com]
Other Pathologies
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Gliosis
Histopathological studies disclosed evidence of advanced panchoroidal atrophy characterised by a marked loss of the RPE and choriocapillaris and mild retinal gliosis. [bjo.bmj.com]
Treatment
Treatment Can Bietti's Crystalline Dystrophy Be Treated? At this time, there is no treatment for BCD. Scientists hope that findings from gene research will be helpful in finding treatments for patients with BCD. [web.archive.org]
Treatment Can Bietti’s Crystalline Dystrophy Be Treated? At this time, there is no treatment for BCD. Scientists hope that findings from gene research will be helpful in finding treatments for patients with BCD. [nei.nih.gov]
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]
At this time, there is no treatment for BCD. Genetic studies are being conducted to find treatments for patients with BCD. Bietti's crystalline dystrophy at NIH's Office of Rare Diseases [en.wikipedia.org]
Prognosis
What is the prognosis for people with Bietti’s crystalline dystrophy? The outlook depends on the individual and some peoples’ symptoms develop much quicker than others. [medic8.com]
Prognosis Bietti Crystalline Dystrophy is inherited as an autosomal recessive condition. [steadyhealth.com]
Prognosis - there is no progression. [patient.info]
LONG TERM PROGNOSIS AFTER REMOVAL OF SILICONE OIL. Da: European Journal of Ophthalmology / Vol. 10 no. 1, 2000/ pp. 60-65. VISUAL ACUITY IMPROVEMENT AND PATIENT SATISFACTION AFTER MULTIPLE SURGERIES FOR RECURRENT RETINAL DETACHMENT WITH PVR. [lesnoni.it]
Etiology
Our findings may help to clarify the etiology of BCD. [ncbi.nlm.nih.gov]
Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.de]
Our findings may help to clarify the etiology of BCD. 著作権等: 2017 The Authors. This work is licensed under a Creative Commons Attribution 4.0 International License. URI: DOI(出版社版): 10.1167/iovs.17-21515 PubMed ID: 28763560 出現コレクション: 学術雑誌掲載論文等 [repository.kulib.kyoto-u.ac.jp]
Choroidal neovascularization (CNV) is usually associated with defects of the retinal pigment epithelium (RPE) and Bruch’s membrane; these are also commonly seen in age-related macular degeneration, which is a disease of complex etiology. [molvis.org]
Epidemiology
PHENOTYPE OF BCD Epidemiology Although BCD has been reported worldwide, it is reported to be more common in East Asia, especially in Chinese and Japanese populations. 4 An epidemiological survey performed in China estimated a gene frequency of 0.005. [journals.lww.com]
Pathophysiology
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.de]
Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview. Ophthalmic Genet 2004;25:101-110. 4. MacLaren RE, Groppe M, Barnard AR et.al. [retina.com.au]
Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview. Ophthalmic Genet. 2004;25(2):101-110. van den Hurk JA, Schwartz M, van Bokhoven H, et al. [retinalphysician.com]
Ongoing genetic research continues to change the understanding of pathophysiology. Stargardt's disease and fundus flavimaculatus [ 3 ] There has been some question as to whether this condition is two diseases or one. [patient.info]
Prevention
Treating Bietti’s crystalline dystrophy There is currently no cure for Bietti’s syndrome and no specific treatments that can be used to improve or prevent symptoms. [medic8.com]
Contact Us Venue Hire Job vacancies About Us Our vision is that everyone has access to and receives high quality eye care for the prevention and treatment of eye disease in order to optimise, preserve and restore vision. [rcophth.ac.uk]
Managing someone who suffers from this condition involves early diagnosis and specialized genetic counseling in order to decrease morbidity through providing a sufferer with preventative care. [steadyhealth.com]
Hygiene in home and everyday life settings plays an important part in preventing spread of infectious diseases. [wikivisually.com]
"Force majeure" term will be regarded as outside of the concerned party's reasonable control and any situation that "Turkiye Klinikleri" cannot prevent even though it shows due diligence. [turkiyeklinikleri.com]