Presentation
Overlapping and atypical presentations have been described for all three types of Usher syndrome. For example some individuals with mutations in type I genes may have a milder presentation (moderate hearing loss and/or a normal vestibular system). [usher-syndrome.org]
The vision loss caused by RP may begin during childhood or later during life, and often first presents with difficulty seeing at night or in low light (“night blindness”). [rarediseases.org]
Eyes
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Night Blindness
Night blindness, congenital stationary, type 1G, 616389 GNAT2 Achromatopsia-4, 613856 GNB3 Night blindness, congenital stationary, type 1H, 617024 GNB3 {Hypertension, essential, susceptibility to}, 145500 GNPTG Mucolipidosis III gamma, 252605 GPR143 Nystagmus [qgenomics.com]
Onset of night blindness occurs during the late teens or early twenties. Peripheral vision loss is ongoing, but central vision is usually retained into adulthood. [rarediseases.org]
The symptoms of RP first manifest as difficulty seeing in dimly lit areas - or night blindness - and a gradual loss of peripheral vision (tunnel vision). These symptoms will generally be noticed before the age of 10 and continue through adulthood. [usher-syndrome.org]
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Visual Impairment
Impairments (NAPVI) Phone: (617) 972-7441 Toll-free: (800) 562-6265 Email: [email protected] Website: National Center on Deaf-Blindness The Teaching Research Institute 345 N. [rarediseases.org]
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Loss of Peripheral Vision
The symptoms of RP first manifest as difficulty seeing in dimly lit areas - or night blindness - and a gradual loss of peripheral vision (tunnel vision). These symptoms will generally be noticed before the age of 10 and continue through adulthood. [usher-syndrome.org]
Ears
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Hearing Impairment
Cataract 41 116400 WFS1 {Diabetes mellitus, noninsulin-dependent, association with}, 125853 WRN Werner syndrome, 277700 YAP1 Coloboma, ocular, 120433 YAP1 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation [qgenomics.com]
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Normal Hearing
hearing, vision and balance. [rarediseases.org]
Neurologic
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Ataxia
248200 ABCA4 {Macular degeneration, age-related, 2}, 153800 ABCC6 Arterial calcification, generalized, of infancy, 2 614473 ABCC6 Pseudoxanthoma elasticum, 264800 ABCC6 Pseudoxanthoma elasticum, forme fruste, 177850 ABHD12 Polyneuropathy, hearing loss, ataxia [qgenomics.com]
DE LEOPARD (3 GENES) NGS BRAF, PTPN11, RAF1 SÍNDROME DE MEDNIK NGS AP1S1 SÍNDROME DE MEGDHEL NGS SERAC1 SÍNDROME DE MOHR-TRANEBJAERG NGS TIMM8A SÍNDROME DE PERRAULT (4 GENES) NGS CLPP, HARS2, HSD17B4, LARS2 SÍNDROME PHARC (POLINEUROPATÍA-HIPOACUSIA-ATAXIA-RETINITIS [humv.es]
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Aphasia
Febrile seizures, familial, 4 604352 GRK1 Oguchi disease-2, 613411 GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 GRN Aphasia, primary progressive, 607485 GRN Ceroid lipofuscinosis, neuronal, 11 614706 GRN Frontotemporal [qgenomics.com]
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Nystagmus
1 congenital, X-linked, 310700 FRMD7 Nystagmus, infantile periodic alternating, X-linked, 310700 FTL Hyperferritinemia-cataract syndrome, 600886 FTL L-ferritin deficiency, dominant and recessive, 615604 FTL Neurodegeneration with brain iron accumulation [qgenomics.com]
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Seizure
Febrile seizures, familial, 4 604352 GRK1 Oguchi disease-2, 613411 GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 GRN Aphasia, primary progressive, 607485 GRN Ceroid lipofuscinosis, neuronal, 11 614706 GRN Frontotemporal [qgenomics.com]
Treatment
Feb 18, 2013 Eye On the Cure Research News History in the Making More good news about treatments and technological advances for restoring vision for people with retinal diseases. [fightingblindness.org]
Standard Therapies Treatment The treatment of Usher syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]
Prevention
anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]