Presentation
Entire Body System
- Disability
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AR 94.8 11 of 12 SPEF2 Primary Ciliary Dyskinesia AR 99.6 10 of 13 SRD5A3 Congenital Disorder Of Glycosylation, Kahrizi Syndrome AR 100 15 of 15 STK36 Primary Ciliary Dyskinesia 100 5 of 5 TELO2 You-Hoover-Fong Syndrome, Telo2- related Intellectual Disability [igenomix.es]
- Inflammation
Retinitis Pigmentosa AD 99.92 – KIF5A Autosomal Dominant Spastic Paraplegia AD 100 85 of 85 KIZ Retinitis Pigmentosa AR na – KLHL7 Retinitis Pigmentosa, Bohring-Opitz Syndrome AD,AR 98.69 19 of 19 KNTC1 Orbital Plasma Cell Granuloma, Chronic Orbital Inflammation [igenomix.es]
- Epilepsy
ACBD5 Retinal Dystrophy With Leukodystrophy AR 100 3 of 3 ACOX1 Mitchell Syndrome, Peroxisomal Acyl-CoA Oxidase Deficiency AD,AR 96.95 22 of 22 ADAM9 Cone Rod Dystrophy AR 100 10 of 10 ADGRV1 Familial Febrile Convulsions, Usher Syndrome, Generalized Epilepsy [igenomix.es]
Eyes
- Photophobia
Red contact lenses for alleviation of photophobia in patients with cone disorders, Am. J. Ophthalmol. 2004;137:774-75 30) Wolfensberger TJ. The role of carbonic anhydrase inhibitors in the management of macular edema. [malattierare.regione.veneto.it]
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]