Presentation
Entire Body System
- Pallor
All of them showed waxen pallor in the optic disc and 92% showed arteriolar attenuation. [go.gale.com]
Eyes
- 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]
It characterizes by a night blindness and loss of the peripheral visual field. It usually appears prematurely in the youth years. This article aims to describe the eye and visual clinical findings in 12 patients with retinitis pigmentosa. [go.gale.com]
Neurologic
- 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]
- 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]
Treatment
Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. Arch. Ophthalmol. 2004;122(9):1297-305 25) Hassof RW, Fishman GA. [malattierare.regione.veneto.it]