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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cone rod dystrophy
Comorbidity C0456909|blindness
Sentences 23
PubMedID- 20976047 retinitis pigmentosa (rp), the leading cause of inherited retinal blindness, encompasses a heterogeneous group of inherited disorders.
PubMedID- 20103962 It is clinically characterized by: (i) childhood obesity (95%), (ii) progressive cone-rod dystrophy ultimately leading to blindness with 90% of the patients becoming blind at the age of 16 years, (iii) sensorineural deafness (80%), (iv) dilated cardiomyopathy (60%), (v) heptic dysfunction (80%), (vi) renal insufficiency (50%), and (vii) endocrinological features.8 it was first described in 1959 and 500 cases have been detected globally so far without any gender predilection.8 it is now considered to be one of the class of genetic diseases known as ciliopathies in which the ciliary function of various cell types are affected, resulting in dysfunction of cells of renal tubules, sperm cells, and retinal cells, thereby producing the components of the syndrome.9 the genetic disease is due to mutations in the alms1 genes, of which 81 mutant genes have been detected so far (table 3).8 as in bardet-biedl syndrome, and because of the wide-ranging and complex spectrum of phenotypes reported in the literature, marshall et al adopted the diagnostic criteria for alström syndrome as shown in table 2.10 in adults, two major criteria and two minor criteria, or one major and four minor criteria are required for the clinical diagnosis of the syndrome.
PubMedID- 20142850 The retinitis pigmentosa (rp) debuted with night blindness at the age of 15 with a decreased visual acuity at the age of 20.
PubMedID- 25101269 retinitis pigmentosa (rp), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes.
PubMedID- 24683495 Hereditary dystrophies of the retina, such as retinitis pigmentosa (rp), are considerable causes of blindness in humans [1].
PubMedID- 21496228 This causes retinitis pigmentosa, which eventually leads to blindness in the affected individual [40,41].
PubMedID- 25340061 Neuromyelitis optica (nmo) is a recurrent neuroinflammatory disease primarily targeting the optic nerves and spinal cord leading to blindness and paralysis.1 the role of complement in the immunopathogenesis of an acute nmo relapse as an effector of damage in the spinal cord and optic nerve was first proposed based on the demonstration of perivascular complement product deposition (c9neo) in affected tissue.2 antibody-mediated complement fixation generally involves the classical complement pathway initiated by c1 binding to immunoglobulin (ig) g, triggering activation of c1r and c1s components of c1, which leads to subsequent downstream activation of the membrane attack complex causing cell lysis and death.
PubMedID- 24312285 Some hereditary diseases, such as retinitis pigmentosa, lead to blindness due to the death of photoreceptors, though the rest of the visual system might be only slightly affected.
PubMedID- 24049434 Patients develop progressive cone rod dystrophy leading to blindness, sensorineural hearing loss (snhl), early onset truncal obesity, hyperinsulinemia and insulin resistance, type 2 diabetes mellitus, hypertriglyceridemia, short stature in adulthood, dilated cardiomyopathy, recurrent pulmonary infections, hypogonadism, and hepatic and renal dysfunction.
PubMedID- 22363840 Neuromyelitis optica (nmo) is a recurrent inflammatory disease that preferentially targets the optic nerves and spinal cord leading to blindness and paralysis.
PubMedID- 21920492 Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
PubMedID- 22903658 The late, nonrenal complications of untreated cystinosis include involvement of different organ systems, i.e., ophthalmological, musculoskeletal, gastrointestinal, endocrine, cardiovascular, neurological.cystine accumulation occurs in the anterior and posterior chambers of the eye, with degenerative pigmentary retinopathy leading to retinal blindness [44]about one-third of adult patients are affected with progressive distal vacuolar myopathy, with severe muscle wasting in some cases (fig.
PubMedID- 25915832 Retinal degenerative diseases such as age-related macular degeneration and retinitis pigmentosa lead to blindness due to gradual loss of photoreceptors, while the inner retinal neurons survive to a large extent1,2, albeit with some rewiring3,4.
PubMedID- 22566558 Alström syndrome (alms; omim: 203800) is a rare ciliopathy (∼50 diagnosed cases in the uk) characterised by cone-rod dystrophy leading to blindness, childhood obesity, hearing loss, hyperinsulinaemia, type 2 diabetes and dilated cardiomyopathy, together with pulmonary, renal, urological and hepatic dysfunction and chronic respiratory tract infections (reviewed in marshall et al., 2011a).
PubMedID- 20807308 Photoreceptor degeneration is the hallmark of a group of inherited blinding diseases collectively termed retinitis pigmentosa (rp); a major cause of blindness in humans.
PubMedID- 20360305 Progressive retinal degenerative diseases, such as age-related macular degeneration (amd) and retinitis pigmentosa (rp), are major causes of untreatable blindness and have a tremendous social and financial burden on society.
PubMedID- 24702847 The most common hereditary retinal degeneration, retinitis pigmentosa (rp), leads to blindness by degeneration of cone photoreceptors.
PubMedID- 21843323 The main clinical features are rod-cone dystrophy with childhood-onset night blindness and visual loss, post-axial polydactyly, truncal obesity that manifests during infancy and remains problematic throughout adulthood, specific learning difficulties, male hypogenitalism and complex female genitourinary malformations.
PubMedID- 20826782 Both cadherins are defective in usher syndrome type i (sensorineural deafness and blindness due to retinitis pigmentosa).
PubMedID- 25957687 Because the secondary loss of cones in retinitis pigmentosa (rp) leads to blindness, the administration of rdcvf is a promising therapy for this untreatable neurodegenerative disease.
PubMedID- 24445513 Importance: neuromyelitis optica (nmo) is an inflammatory disease of the optic nerves and spinal cord that leads to blindness and paralysis.
PubMedID- 25324289 Purpose: retinitis pigmentosa (rp), a major cause of blindness in developed countries, has multiple causative genes; its prevalence differs by ethnicity.
PubMedID- 21552296 Nmo is a neuroinflammatory demyelinating disease that, unlike multiple sclerosis, primarily affects optic nerve and spinal cord, leading to blindness, paralysis and death73.

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