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]

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]

Inheritance - congenital achromatopsia is transmitted in an autosomal-recessive trait Presentation - patients present in early childhood with nystagmus, abnormal visual behaviour or photophobia. Acuity is less than 20/200. [patient.info]

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 Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

Young people seek treatment quite often, too. Among the causes of the disease there are: thyroid and cardiovascular diseases, injuries, pregnancy. [visus-novus.ru]

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]

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]

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. [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]

Prognosis - there is no progression. [patient.info]

Heredity was the main etiology, and consanguinity was high. [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]

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]

Epidemiology Frequency United States Macular corneal dystrophy is uncommon, but areas with the highest prevalence include parts of the United States. [emedicine.medscape.com]

Diagnosis: Malattia Leventinese ( Familial Dominant Drusen or Doyne Honeycomb Retinal Dystrophy ) EPIDEMIOLOGY Age at onset: young patients with drusen (earliest reported age 15, common to have signs in second and third decade of life) Genetics: Defect [eyerounds.org]

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]

General Pathology and Pathophysiology Currently, it is believed that Best disease represents a primary disturbance of the RPE. [eyewiki.aao.org]

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]

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]

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]

[…] 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 of the study eye that prevents adequate physical [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]