Edit concept Question Editor Create issue ticket

Peripheral Cone Dystrophy


Presentation

  • Presents a more streamlined format to the printed text to help you focus on the clinically actionable information you need everyday.[books.google.com]
  • Peripheral cone dystrophy, like central cone dystrophy, presents with photophobia, hemeralopia and visual field loss. However, because the peripheral cones are affected, visual acuity and color vision are preserved.[aao.org]
  • A 19-year-old man presented with worsening peripheral visual field loss in his right eye greater than his left eye over 8 months. He also complained of hemeralopia and photophobia.[journals.lww.com]
  • Kondo et al. [ 3 ] presented two siblings with PCD, but the causative gene for the PCD was not determined.[link.springer.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]
Hunting
  • Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol. 2004;88:291-297. Simunovic MP, Moore AT. The cone dystrophies. Eye (Lond). 1998;12:553-565. FROM THE INTERNET Openshaw A, Branham K, Heckenlively J.[rarediseases.org]
  • FAMILIARE DI VITAMINA E DEGENERAZIONE CEREBELLARE DI MARIE DEGENERAZIONE CEREBELLARE SUBACUTA DEGENERAZIONE PARENCHIMATOSA CORTICALE CEREBELLARE DEGENERAZIONE SPINOCEREBELLARE DI HOLMES DEJERINE SOTTAS MALATTIA DI DISSINERGIA CEREBELLARE MIOCLONICA DI HUNT[santobonopausilipon.it]
  • DIASTROFICA E PSEUDODIASTROFICA RNG060 DISPLASIA EPIFISARIA EMIMELICA RNG050 DISPLASIA FIBROSA RNG060 DISPLASIA FRONTO-FACIO-NASALE RNG040 DISPLASIA MAXILLONASALE RNG040 DISPLASIA SPONDILOEPIFISARIA TARDA RNG060 DISSINERGIA CEREBELLARE MIOCLONICA DI HUNT[malattie-rare.org]
  • Michaelides M, Hardcastle AJ, Hunt DM, Moore AT. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. Surv Ophthalmol. 2006;51(3):232–258.[entokey.com]
Scotoma
  • Goldmann perimetry showed full peripheral visual fields but relative central scotomas within the central 20 . The results of the Humphrey Visual Field Analyzer showed a limited preservation of the central sensitivity.[ncbi.nlm.nih.gov]
  • Humphrey's visual field revealed a C-shaped scotoma. Photopic electroretinogram (ERG) and 30-Hz flicker revealed decreased cone function; however, scotopic ERG noted a normal response.[ncbi.nlm.nih.gov]
  • A relative paracentral scotoma was detected in 2 patients. Full-field ERG cone responses were reduced significantly, but rod responses were normal in all patients, as in patients with typical cone dystrophy.[ncbi.nlm.nih.gov]
  • Visual fields are normal except for small paracentral scotomas. Temporal pallor has been noted in the optic discs of 2 patients. Cone responses on ERG were demonstrated to decrease in one patient during a 4 year interval.[disorders.eyes.arizona.edu]
  • Humphrey visual field testing (30-2) shows a relative central scotoma within 20 in right eye and 30 in left eye in the PCD patient.[link.springer.com]
Blurred Vision
  • Clinical Correlations: Some patients in the first two decades of life are aware of blurred vision whereas it may be normal in others. Night blindness does not occur as the rods seem to function normally.[disorders.eyes.arizona.edu]
  • Symptoms include blurred vision, abnormal side vision, abnormal color vision, decreased brightness in one eye relative to the other.[w3.org]
  • Where both eyes are affected then the student will have blurred vision.[prcvi.org]
  • A person with amblyopia experiences blurred vision in the affected eye. However, children often do not complain of blurred vision in the amblyopic eye because this seems normal to them.[afb.org]
  • Presentation - aged 40-50 years: blurred vision distortion of images (metamorphopsia) which may be mild to the point that this condition is often discovered by chance.[patient.info]
Lacrimation
  • The book is divided into 13 sections covering: Principles of ophthalmology Ophthalmic History and Examination Correction of Refractive errors Basic Eye Examination Acute ophthalmology Gradual loss of vision Paediatric ophthalmology Eyelid, lacrimal and[books.google.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]
  • Further workup was directed at identifying the nature of his apparent retinal dystrophy. OCT showed an abnormal foveal contour with macular thinning and photoreceptor loss in both eyes ( See Figure 2 ).[reviewofophthalmology.com]
  • In addition, sequencing of exomes of trios should become an early part of the diagnostic workup of retinal dystrophy.[molvis.org]

Treatment

  • Treatment Treatment Options: No treatment is available but visual function can be enhanced with low vision aids. References Kondo M, Miyake Y, Kondo N, Ueno S, Takakuwa H, Terasaki H.[disorders.eyes.arizona.edu]
  • 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.de]
  • Helps you make optimal use of the newest drug therapies, including Anti-VEGF treatment for wet ARMD and bevacizumab treatment for complications of diabetes.[books.google.com]
  • No treatment is available but low vision aids can be helpful to some patients.[disorders.eyes.arizona.edu]
  • Usher Syndrome treatment : With our treatment of electro-acupuncture we successfully treat all types of Usher Syndrome.[retinitispigmentosacure.com]

Prognosis

  • Diagnosis and Prognosis: This is solely an ocular disorder and can only be diagnosed by an ophthalmologist using an electrophysiological test called an electroretinogram or ERG.[disorders.eyes.arizona.edu]
  • 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]
  • Serial tests are necessary to determine prognosis. Peripheral vision and independent mobility is usually maintained for many years. Reading can usually be maintained to a late age with a variety of spectacles aids.[eyedr4kids.com]

Etiology

  • What is the likely etiology? a. Stargardt’s macular dystrophy. b. Geographic atrophy from macular degeneration. c. Central areolar choroidal dystrophy. d. North Carolina macular dystrophy. 3.[reviewofoptometry.com]
  • In addition, due to the symmetric annular nature of the macular changes at the level of the retinal pigment epithelium, it is necessary to consider various etiologies of bull’s eye maculopathy, including cone dystrophy, medication toxicity (phenothiazines[healio.com]
  • They are characterized predominantly by changes in the posterior pole of genetic etiology, and are often bilateral and symmetrical.[atlasrleye.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

  • الصفحة 191 - The Framingham Eye Study Monograph: An ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973-1975. ‏[books.google.com]
  • Epidemiology Worldwide there are more than five million people suffering from various forms of Retinitis Pigmentosa Cure.[retinitispigmentosacure.com]
Sex distribution
Age distribution

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]
  • We have reported that some patients with occult macular dystrophy show the pathophysiological properties of a central cone dystrophy, where only the macular cones are affected with preservation of the macular rods.[centrallakesclinic.biz]
  • 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]

Prevention

  • Vaphiades, DO, Department of Ophthalmology, University of Alabama at Birmingham, Suite 601, 700 South, 18th Street, Birmingham, AL 35233; E-mail: vaph@uab.edu Supported in part by an unrestricted grant from the Research to Prevent Blindness Inc, New York[journals.lww.com]
  • Source : Medline Plus Prevention The prognosis is poor since there is no cure for the disease. However, there are researchers working hard on this disease.[provisu.ch]
  • At present, there are no treatment modalities to prevent disease progression.[atlasrleye.com]
  • Early detection through regular eye examination and prompt treatment is essential to prevent vision loss.[afb.org]
  • Often the lens becomes cloudy and prevents light from refracting onto the retina at the back of the eye.[prcvi.org]

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!