Presentation
Presents new pharmacotherapy data and the latest approaches in anti-VEGF therapy for age-related macular degeneration, diabetic retinopathy, and venous occlusive disease. [books.google.com]
Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular [diseaseinfosearch.org]
Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular [yumpu.com]
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]
Poster presentation at Scottish Ophthalmological Club Meeting, Stirling, 21 st February 2014. References Heckenlively JR (1987) RP cone-rod degeneration. [oatext.com]
Entire Body System
-
Physician
This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]
*Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians. [medscape.com]
[…] the University of Iowa Eye Clinic, 11200 Pomerantz Family Pavilion, near Elevator L on Level 1 Mailing address Institute for Vision Research Inherited Eye Disease Service University of Iowa Hospitals & Clinics 200 Hawkins Drive Iowa City, IA 52242 Our physicians [medicine.uiowa.edu]
Our physicians can use genetic testing to help diagnose several conditions, including the following: Achromatopsia Albinism Best disease Choroideremia Cone rod dystrophy Congenital stationary night blindness Corneal dystrophy Doyne honeycomb dystrophy [columbiaeye.org]
Onset of symptoms is usually between 5 and 10 years of age, when parents or physicians may notice a child has begun to develop vision problems or seizures. … Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorders) March 12, 2018 by Peter Ciszewski [checkrare.com]
-
Inflammation
Contains thorough content updates in every area of retina, including advanced imaging technologies, gene therapy, inflammation and immune responses, white dot syndromes, epigenetic mechanisms, transplantation frontiers to improve retinal function, macular [books.google.com]
Neonatal onset multisystem inflammatory disease (NOMID) is a rare disorder that causes inflammation and tissue damage primarily affecting the nervous system, skin, and joints. [checkrare.com]
Another major concern is the possibility of inducing an immune response to the virus that causes ocular inflammation and impacts the retina and vision. [consultqd.clevelandclinic.org]
X-linked retinitis pigmentosa heterozygote Index to Diseases and Injuries References found for the code H35.52 in the Index to Diseases and Injuries: - Dystrophy, dystrophia - retinal (hereditary) - H35.50 - pigmentary - H35.52 - Retinitis - See Also: Inflammation [icdlist.com]
-
Movement Disorder
This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. [books.google.com]
Eyes
-
Retinal Pigmentation
Microscopically, the macular retinal pigment epithelium was absent focally and had pigmentary changes elsewhere. Cones and rods were absent from the perifovea and reduced with shortened outer segments elsewhere in the macula. [ncbi.nlm.nih.gov]
pigment epithelium (Pinckers and Timmerman 1981; Pinckers and Deutman 1987; Jacobson et al. 1989). [yumpu.com]
The fluorescein angiography and optical coherence tomography showed retinal pigment epithelial atrophy in the macula. The fundus auto-fluorescence image showed hypo-reflectivity. His visual field showed a paracentral/central scotoma. [retinareference.com]
-
Night Blindness
CONCLUSION: CACNA1F mutations cause the retinal disorder, incomplete congenital stationary night blindness (CSNB2), although mutations have also been detected in patients with divergent diagnoses. [ncbi.nlm.nih.gov]
Conclusions: Mutations in CACNA1F are known to cause the incomplete form of X–linked congenital stationary night blindness (CSNB2), including an Åland Island eye disease–like phenotype, and retinal and optic disc atrophy. [iovs.arvojournals.org]
It typically causes an early-onset night blindness and loss of peripheral vision, often causing the patients to become legally blind by the age of 30–40 years. [yumpu.com]
In young patients with the symptom of night blindness, it is important to differentiate retinitis pigmentosa from stationary night blindness. [ommbid.mhmedical.com]
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]
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]
Treatment
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
Offers the most comprehensive content available on retina, balancing the latest scientific research and clinical correlations, covering everything you need to know on retinal diagnosis, treatment, development, structure, function, and pathophysiology. [books.google.com]
Genetic heterogeneity makes diagnosis and treatment tricky Selecting the appropriate patients for enrollment in trials, and for treatments in the setting of clinical practice, is critical and depends on a precise and firm molecular diagnosis. [consultqd.clevelandclinic.org]
More information about Cone-Rod Dystrophy genetics and inheritance you can find here: TREATMENT & RESEARCH Currently there is no treatment for Cone-Rod Dystrophy. [rawa.com.au]
Treatment Treatment Options: There is no treatment for these dystrophies but red-tinted lenses provide comfort and may sometimes improve acuity to some extent. Low vision aids can be helpful. [disorders.eyes.arizona.edu]
Prognosis
Prognosis - there is no progression. [patient.info]
Management and treatment Currently, there is no therapy that stops the evolution of the disease or restores the vision, and the visual prognosis is poor. [orpha.net]
It has a reasonable prognosis. It is often called Best disease, especially in younger people. [goodhopeeyeclinic.org.uk]
Etiology
Etiology CRDs are most frequently nonsyndromic, but they may also be part of several syndromes, such as Bardet-Biedl syndrome (see this term) and Spinocerebellar Ataxia Type 7 (SCA7). [orpha.net]
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. [ghr.nlm.nih.gov]
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]
Ours is the first investigation of familial CD in Indian patients; hence, it presents the primary genetic etiology of CD in India. [journals.lww.com]
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, et al. (2012) Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 119: 819–826. View Article Google Scholar 50. [journals.plos.org]
Epidemiology
Summary Epidemiology The prevalence of CRDs is estimated at 1 in 40,000. Clinical description CRDs are characterized by retinal pigment deposits, visible on fundus examination, predominantly localized to the macular region. [orpha.net]
Department of Epidemiology Erasmus Medical Center Rotterdam Netherlands About this article Cite this article as: Thiadens, A.A.H.J., Slingerland, N.W.R., Florijn, R.J. et al. Graefes Arch Clin Exp Ophthalmol (2012) 250: 769. [link.springer.com]
[…] effector domain of the CAP family of transcription factors (Fig. 2C, D). 3.4 Discussion and conclusion A detailed catalogue of causal variants for inherited RD from north Indian patients is much needed, as there is limited understanding on its genetic epidemiology [journals.lww.com]
Pathophysiology
Offers the most comprehensive content available on retina, balancing the latest scientific research and clinical correlations, covering everything you need to know on retinal diagnosis, treatment, development, structure, function, and pathophysiology. [books.google.com]
Fundus Autofluorescence Fundus AF imaging has been used to assist in the diagnosis, to aid detailed description of the phenotype, and to provide insights into the natural history and underlying pathophysiology of COD and CORD. [entokey.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
Foundation Fighting Blindness homepage The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, age-related macular degeneration, [blindness.org]
A treatment called cornea collagen crosslinking is often effective to help prevent worsening. Intacs are implants that are placed under the surface of the cornea to reduce the cone shape and improve vision. [webmd.com]
Other cataracts can make the entire lens cloudy and prevent the lens from focusing images into the eye. [retinafoundation.org]
This work was supported by a grant (TYH1338) from the Finnish State (TA), by the NIH Grant EY13130 (MBG), by the Eye & Ear Foundation of Pittsburgh, Pittsburgh, PA (MBG), and by Research to Prevent Blindness, NY, NY. [jmg.bmj.com]