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]

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]

Peripheral vision loss is ongoing, but central vision is usually retained into adulthood. Visual problems associated with Usher syndrome type 2 tend to progress more slowly than those associated with type 1. [rarediseases.org]

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]

hearing, vision and balance. [rarediseases.org]

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]

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]

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]

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]