Presentation
In most of the cases a marked nystagmus was present and photophobia was recorded in spite of the extremely poor visual function. [jamanetwork.com]
Eyes
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Night Blindness
In some of the lessaffected children a marked degree of night blindness was recorded. In the first months of life it was not possible to observe essential alterations in the fundus oculi. In a [jamanetwork.com]
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]
Neurologic
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Nystagmus
In most of the cases a marked nystagmus was present and photophobia was recorded in spite of the extremely poor visual function. [jamanetwork.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]
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]
Prevention
anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]