Six patients (26.0%) presented manifest bilateral nystagmus. On the cover test, three subjects presented esotropia, two presented exotropia, and one presented intermittent exotropia; the remaining 17 subjects had orthoposition of the visual axes. [scielo.br]

Various degrees of retinal atrophy are also present. [centogene.com]

A patient with cone-rod dystrophy, who was examined thoroughly with biomicroscopy, fluorescein angiography, optical coherence tomography, and electrophysiology, is presented. [healio.com]

The genetic cause for Leber congenital amaurosis in this patient is presently under investigation, AIPL1 being the strongest candidate. [medscape.com]

• Pallor

  Late stage findings include peripheral retinal pigment epithelium atrophy, intraretinal pigment migration, arteriolar attenuation, and optic disc pallor. [orpha.net]

  Temporal disc pallor has also been observed in certain patients. [healio.com]

  Affiliated tissues include bone, eye and retina, and related phenotypes are optic disc pallor and postaxial polydactyly Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous or compound heterozygous mutation in the C8ORF37 gene [malacards.org]

  The optic nerve often has some pallor beginning temporally. Carrier females can have some diminished acuity, myopia, RPE changes, and even photophobia but normal color vision and ERG responses at least among younger individuals. [disorders.eyes.arizona.edu]

  (P) Composite fundus photograph showing profound peripheral atrophy, severe attenuation of retinal vessels, extensive bone spicule and nummular pigmentation, and waxy pallor of the optic disc. [iovs.arvojournals.org]

• Central Scotoma

  In type 1a, there was a central or paracentral scotoma, and cone thresholds were more elevated centrally than peripherally. In type 1b, there was no central scotoma, and cone thresholds were more elevated peripherally than centrally. [jamanetwork.com]

  Yagasaki and Jacobson Classification Type of CORD Clinical feature Type I (Slow progression) Central rod and cone functional loss, Eccentric fixation, Mild peripheral photoreceptor dysfunction Type II (More severe) Central scotoma, Eccentric fixation, [slideshare.net]

  Log out Cancel Cone Dystrophies and Cone-Rod Dystrophies Cone dystrophies and cone-rod dystrophies are a group of progressive diseases in which, opposite to rod-cone dystrophies, cone dysfunction (hence, light aversion, central scotomas, and loss of central [medscape.com]

  Patients in their 40s had central scotomas and lost driving vision; those in their 60s were legally blind. [bjo.bmj.com]

  As expected, visual field testing in cone dystrophy usually reveals a central scotoma. In cases with the typical bull’s-eye appearance, there is often relative central sparing. [en.wikipedia.org]

• Seizure

  Dystrophy, Leber Congenital Amaurosis, Retinitis Pigmentosa AD,AR,X,XR,G 99.91 117 of 117 CTSD Neuronal Ceroid Lipofuscinosis AR 100 18 of 18 CWC27 Retinitis Pigmentosa With Or Without Skeletal Anomalies AR 99.77 8 of 8 DHDDS Developmental Delay And Seizures [igenomix.es]

  However, it is associated with increased risk of seizures. Low-resolution imaging, craniotomy-associated risks and the cost should be considered. [institut-vision.org]

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]

• Central Scotoma

  In type 1a, there was a central or paracentral scotoma, and cone thresholds were more elevated centrally than peripherally. In type 1b, there was no central scotoma, and cone thresholds were more elevated peripherally than centrally. [jamanetwork.com]

  Yagasaki and Jacobson Classification Type of CORD Clinical feature Type I (Slow progression) Central rod and cone functional loss, Eccentric fixation, Mild peripheral photoreceptor dysfunction Type II (More severe) Central scotoma, Eccentric fixation, [slideshare.net]

  Log out Cancel Cone Dystrophies and Cone-Rod Dystrophies Cone dystrophies and cone-rod dystrophies are a group of progressive diseases in which, opposite to rod-cone dystrophies, cone dysfunction (hence, light aversion, central scotomas, and loss of central [medscape.com]

  Patients in their 40s had central scotomas and lost driving vision; those in their 60s were legally blind. [bjo.bmj.com]

  As expected, visual field testing in cone dystrophy usually reveals a central scotoma. In cases with the typical bull’s-eye appearance, there is often relative central sparing. [en.wikipedia.org]

Currently, there is no treatment to stop a person with Cone Rod Dystrophy (CRD) from losing their vision. Possible future treatments for CRD may include gene therapy, stem cell therapy, and retinal implants. [marketresearchfuture.com]

Our team also distinguishes retinal dystrophies from cancer-associated, melanoma-associated, and autoimmune retinopathy and provides treatment for those inflammatory conditions with immunosuppression. [umkelloggeye.org]

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]

What treatments are available? At the time of submission of the application for orphan designation, no satisfactory method had been authorised in the European Union for the treatment of the condition. [silo.tips]

[…] for cone-rod dystrophy Currently there are no treatments for cone-rod dystrophy. [lowvisionmd.org]

Prognosis Visual prognosis is variable, with early central vision loss and progressive visual dysfunction leading to legal blindness before 40 years of age in most cases. [orpha.net]

Diagnosis and Prognosis: Since both hearing and seeing seem normal at birth it is unlikely that this condition will be diagnosed at birth. [disorders.eyes.arizona.edu]

[edit] A prognosis for Alström syndrome is complicated because it widely varies. [en.wikipedia.org]

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]

 Symptomatic onset usually occurs in childhood  Central scotoma and rapidly progressing macular atrophy  Majority of patients have rod involvement at presentation (CORD)  Associated with a worse prognosis 53.  Funduscopy: Initially normal fundus [slideshare.net]

Etiology Nonsyndromic CRDs are genetically heterogeneous (28 genes have been identified). [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]

The etiology of retinal detachment and cysts in our case is not clear. [healio.com]

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 119, 819–826 (2012). 3. Michaelides, M., Hardcastle, A. J., Hunt, D. M. & Moore, A. T. [nature.com]

[…] according to the genes involved  Non syndromic CRDs are genetically heterogeneous  3 Mendelian types of inheritance have been reported  13 genes responsible for non syndromic CRDs (10 cloned, 3 mapped)  These genes can be classified into 4 categories Etiology [slideshare.net]

Summary Epidemiology The prevalence is estimated at 1 in 40,000 in Europe. [orpha.net]

Epidemiological studies on the prevalence of these conditions are scarce. [nature.com]

Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Gen. 2005;132A:352-60, http://dx.doi.org/10.1002/ajmg.a.30406. [ Links ] 4. Schachat AP, Maumenee IH. [scielo.br]

One doctor to treat the medical condition by preventing AMD from worsening, and a low vision doctor to maximize the patient’s remaining vision. [lowvisiondoctorsofohio.com]

The Foundation Fighting Blindness, of which we are a board member, raises funds that drive the research to find cures, treatments, and preventions for the spectrum of inherited retinal diseases that lead to blindness, including cone-rod dystrophy. [lowvisionmd.org]

Prevention[edit] Prevention for Alström syndrome is considered to be harder compared to other diseases/syndromes because it is an inherited condition. [en.wikipedia.org]

__________________________ Opinions on orphan medicinal product designations are based on the following three criteria: • the seriousness of the condition; • the existence of alternative methods of diagnosis, prevention or treatment; • either the rarity [silo.tips]

Visual field  Central scotoma appears first, preventing fluent reading  Loss of peripheral vision follow  Severe vision loss earlier than in retinitis pigmentosa  Visual field defects begin in the pericentral region between 5-30 degrees from fixation [slideshare.net]