Presentation
A 39-year old man presented 13 years ago with a history of progressive loss of vision and photophobia. [ncbi.nlm.nih.gov]
Data are presented as described in Figure 2. F igure 3. Cone ( A ) and rod ( B ) system results in patient 6. Data are presented as described in Figure 2. F igure 4. [iovs.arvojournals.org]
Psychiatrical
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Suggestibility
No strong suggestion of linkage emerged from the analyses, but very close linkage could be excluded for several of genetic marker systems. [ncbi.nlm.nih.gov]
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
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]
Treatment Treatment Options: No treatment is available but darkly tinted lenses can alleviate much of the photophobia. Low vision aids and vocational training should be offered. [disorders.eyes.arizona.edu]
At present, there is no treatment for this condition. [visionaware.org]
Prognosis
Prognosis - there is no progression. [patient.info]
STGD typically has an onset at 10 to 20 years of age, and its earliest symptoms are consistent with slowly progressive central vision loss. 17 Later ages of onset have been associated with a more favorable visual prognosis. 18,19 Cases of asymptomatic [retinatoday.com]
It has a reasonable prognosis. It is often called Best disease, especially in younger people. [goodhopeeyeclinic.org.uk]
These patients have a poor visual prognosis. This has an autosomal dominant inheritance, with onset at birth. Visual acuity in patients with CACD gradually deteriorates as the disease progresses. [reviewofoptometry.com]
According to some studies, individuals with adRP have the best prognosis, with the majority of those younger than age 30 years having a visual acuity of 20/30 or better. [institut-vision.org]
Etiology
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.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]
Etiology Causatives genes RP is characterized by enormous genetic heterogeneity. At least 45 different genes and loci have been identified to cause nonsyndromic RP so far. [institut-vision.org]
Epidemiology
Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]
Relevant External Links for GUCA1A Genetic Association Database (GAD) GUCA1A Human Genome Epidemiology (HuGE) Navigator GUCA1A Atlas of Genetics and Cytogenetics in Oncology and Haematology: GUCA1A No data available for Genatlas for GUCA1A Gene A novel [genecards.org]
[…] 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
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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]
However, it is important for our understanding of the pathophysiologic processes underlying visual loss in elderly patients to define exactly disorders that may have similarities to AMD. [jamanetwork.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]
• The pathophysiology and genetic mutation responsible for this condition have not been identified. • TREATMENT:When active macular neovascularization occurs in affected individuals, it has been responsive to either focal laser or a single injection [slideshare.net]
Prevention
Home remedies. 20-30 ml amla juice daily morning mixed with 1 table spoon honey is a good anti oxidant and it helps to prevent the progress of disease. [ayurprakash.com]
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]
Early detection through regular eye examination and prompt treatment is essential to prevent vision loss. [visionaware.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]
Prevention the secondary degeneration of cones in RP represents a very promising approach. This because such a therapy could be applied in a wide range of mutations expressed in rods, and even at late stages of the disease. [institut-vision.org]