Edit concept Question Editor Create issue ticket

Retinal Dystrophy


Presentation

  • To present detailed phenotypic and molecular findings in four patients from four families with atypical, mild, recessive RPE65-related retinal dystrophy and discuss potential implications for gene replacement therapy.[ncbi.nlm.nih.gov]
  • PURPOSE: The aim of the present population-based cross-sectional study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children.[ncbi.nlm.nih.gov]
  • 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]
  • RESULTS: A total of 90 candidate variants were present in the 129 genes. Sanger sequencing confirmed 83 of the 90 variants. Analysis of family members and controls excluded 76 of these 83 variants.[ncbi.nlm.nih.gov]
  • The electrophysiological and fundus autofluorescence imaging presented here should facilitate the molecular diagnosis in further families. Copyright 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
Whipple Disease
  • Crohn disease, Whipple's disease) Chronic inflammation of the skin in the area of the eye (e.g. dermatitis, rosacea, infection of the skin, herpes zoster) Chronic inflammation in the area of the eye (e.g. herpes of cornea and/or conjunctiva, recurrent[clinicaltrials.gov]
Enophthalmos
  • CASE REPORTS: Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes.[ncbi.nlm.nih.gov]
Spastic Quadriplegia
  • 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 11 12 EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation AR 3 6 EYS * Retitinis pigmentosa AR 77 277 FAM161A Retitinis pigmentosa AR 11 18 FLVCR1 Ataxia, posterior[blueprintgenetics.com]

Workup

  • The inclusion of fluorescein angiography in the workup of these patients is important since it can help detect many of these characteristic ophthalmoscopic features.[en.wikipedia.org]
  • Diagnosis, Workup and Treatment The differential diagnosis of an otherwise healthy young male presenting with nyctalopia and macular and midperipheral subretinal flecks is the family of fleck retinal dystrophies including Stargardt disease, fundus flavimaculatus[reviewofophthalmology.com]

Treatment

  • Carbonic anhydrase inhibitor (CAI) treatment may reduce the size of MSC and improve vision. METHODS: A retrospective study of patients with retinal dystrophy with MCS seen between 2009 and 2013 at two sites.[ncbi.nlm.nih.gov]
  • Young people seek treatment quite often, too. Among the causes of the disease there are: thyroid and cardiovascular diseases, injuries, pregnancy.[visus-novus.ru]
  • The identification of novel genotype-phenotype correlations and the spectrum of mutations greatly enhance the current knowledge of IRD phenotypic and genotypic heterogeneity, which will assist both clinical diagnoses and personalized treatments of IRD[ncbi.nlm.nih.gov]
  • QLT's oral synthetic retinoid granted orphan drug designation for treatment of Leber Congenital Amaurosis QLT Inc. today announced that the U.S.[news-medical.net]

Prognosis

  • To decrease their incidence, awareness of the family members of the risks of consanguinous marriage and appropriate therapy for congenital glaucoma/cataract may significantly improve the child's visual prognosis. Copyright 2014 Elsevier Masson SAS.[ncbi.nlm.nih.gov]
  • Identifying the causative genetic mutation facilitates genetic counselling, carrier testing and prenatal/pre-implantation diagnosis, and often leads to a clearer prognosis.[ncbi.nlm.nih.gov]
  • Prognosis - Doyne honeycomb retinal dystrophy Not supplied. Treatment - Doyne honeycomb retinal dystrophy Not supplied. Resources - Doyne honeycomb retinal dystrophy Not supplied.[checkorphan.org]
  • Lots of genotypes, genes BJO 19 Use sunglasses some vision is maintained Retina 18 genes BJO 19 Why test genes Not teatable, and variable outocome Can give some prognosis, syndromic, Families keen to know Whole genome scan Case 43y Poor vison years, 6[goodhopeeyeclinic.org.uk]
  • Retinitis PigmentosaUsher SyndromeHallgren‟s SyndromeRefsum‟s syndrome 41.  Prognosis: worst prognosis severe Vision loss by 4th  XL- decade  ARor sporadic cases-favourable with retention of CF until 5th decade  ADbest prognosis and CF present beyond[slideshare.net]

Etiology

  • Heredity was the main etiology, and consanguinity was high.[ncbi.nlm.nih.gov]
  • Because of extreme genetic heterogeneity, the etiology and genotypic spectrum of IRD have not been clearly defined, and there is limited information on genotype-phenotype correlations.[ncbi.nlm.nih.gov]
  • In this study, we wanted to clinically characterize and investigate the molecular etiology of an atypical form of autosomal recessive retinal dystrophy in two consanguineous Spanish families.[ncbi.nlm.nih.gov]
  • Results obtained in these families necessitated further genetic and clinical testing of additional family members to determine the complex genetic and phenotypic etiology of each family.[ncbi.nlm.nih.gov]
  • Etiology SECORD is genetically heterogeneous, being caused by many genes including those causing LCA ( ABCA4 (1p22), ADAMTS18 (16q23), AIPL1 (17p13.1), BEST1 (11q12), CRB1 (1q31.3), CRX (19q13.3), GUCY2D (17p13.1), IMPDH1 (7q31.3-q32), IMPG1 (6q14.2-q15[orpha.net]

Epidemiology

  • Many of the dystrophies are the subject of clinical intervention trials, and nation-wide epidemiological data can help assess the future need for treatment.[ncbi.nlm.nih.gov]
  • Summary Epidemiology The prevalence is hard to predict as many SECORD patients have been previously diagnosed as Leber congenital amaurosis (LCA) patients.[orpha.net]
  • Summary Epidemiology The prevalence of AOFVD is unknown. Clinical description The clinical onset is typically between the fourth and sixth decade of life.[orpha.net]
  • Epidemiology Frequency United States Macular corneal dystrophy is uncommon, but areas with the highest prevalence include parts of the United States.[emedicine.medscape.com]
  • Epidemiological, twin and family studies indicate that in most cases age-related macular degeneration is transmitted as a complex trait, a condition in which the interplay of multiple susceptibility genes and environmental factors determines an individual's[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Molecular genetic testing aids in the diagnosis and elucidation of pathophysiology. Carbonic anhydrase inhibitors may promote resolution of the cysts resulting in visual improvement.[journals.lww.com]
  • 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]
  • Pathophysiology The metabolic defect for macular corneal dystrophy appears to be an error in the synthesis of keratan sulfate, which leads to accumulation of glycosaminoglycans in the cornea.[emedicine.medscape.com]
  • General Pathology and Pathophysiology Currently, it is believed that Best disease represents a primary disturbance of the RPE.[eyewiki.aao.org]
  • Advances over the last two decades in gene identification and cell biology techniques have led to a step change in our understanding providing real insights into the genetic defects and molecular pathophysiological mechanisms that underlie these conditions[ncbi.nlm.nih.gov]

Prevention

  • The World Health Organisation Programme for the Prevention of Blindness (WHO/PBL) examination record for children was used. Data was analysed by the SPSS version 17 statistical software.[ncbi.nlm.nih.gov]
  • Prevention There are no ways to prevent retinal dystrophy. Parents may choose genetic testing before deciding to have children who would inherit these disorders. Contact Us Please contact us at (239)390-3339 or click here to use our contact form[retinaandmacula.com]
  • Symptoms - Doyne honeycomb retinal dystrophy Causes - Doyne honeycomb retinal dystrophy Prevention - Doyne honeycomb retinal dystrophy Not supplied.[checkorphan.org]
  • .), Has any disease or condition that prevents adequate visualization of the retina of the study eye including, but not limited to, corneal degeneration that cannot be resolved prior to implantation, Has any disease or condition of the anterior segment[clinicaltrials.gov]
  • Ear, Harvard Medical School, along with their colleagues, reported the unexpected finding that in mice genetically engineered to have an inherited form of macular degeneration, turning off the animals' complement system, a part of the immune system, prevented[news-medical.net]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!