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Cone dystrophy 4
- ... present in other family members. Pigmentary retinopathy Rod-cone dystrophy RP Tapetoretinal degeneration Genetic Testing Registry: Retinitis pigmentosa ...
- ... resembles a category of retinal disorders called rod-cone dystrophies. The most common rod-cone dystrophy is called retinitis pigmentosa, and the vision problems ...
- ... Mollon JD, Maher ER, Hunt DM, Moore AT. Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2). Br J Ophthalmol. 2003 Nov; ...
- ... Neitz M. Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. J Opt Soc ... A novel mutation in the short-wavelength-sensitive cone pigment gene ... 2006 May-Aug;23(3-4):403-9. doi: 10.1017/S0952523806233169. Citation on ...
- ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the ...
- ... thoracic dystrophy 2 Genetic Testing Registry: Asphyxiating thoracic dystrophy 4 Genetic Testing Registry: Asphyxiating thoracic dystrophy 5 Genetic Testing Registry: Asphyxiating thoracic dystrophy 1 ...
- Getting Professional Eye Care (Prevent Blindness America)Health Screening/Specifics ... Health Screening ... Eye Care/Diagnosis and Tests ... Eye Care ... Eye Diseases/Diagnosis and Tests ... Eye Diseases ... What you need to know to get ...
- ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase ...
- ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
- ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition MedlinePlus Genetics provides ...