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Pigmentary retinal dystrophy and the syndrome of ... | 合法醫療器材資訊網

Pigmentary retinal dystrophy and the syndrome of ...

由PRSmith著作·1999·被引用89次—Conclusions:AbnormalitiesofretinalpigmentationarecommoninsubjectswithmaternallyinheriteddiabetesanddeafnesscausedbythemitochondrialDNAA3243G ...

 Pigmentary retinal dystrophy and the syndrome of ...

Objective: To study the association of retinal disease and the syndrome of maternally inherited diabetes and deafness caused by an A to G mutation in the tRNA leucine gene at base pair 3243 (A3243G) of the mitochondrial genome.

Design: Observational study of a genetically defined subject group.

Participants: Thirteen subjects with the mitochondrial DNA A3243G mutation from seven different pedigrees with maternally inherited diabetes and deafness.

Intervention: Assessment of visual symptoms and visual acuity, dilated indirect ophthalmoscopy, retinal photography, and r...

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Retinal dystrophy pigmentary retinal dystrophy中文 Hereditary retinal dystrophies Macular dystrophy Retinitis pigmentosa Retinal disease Stargardt disease retinal dystrophies中文 retinitis pigmentosa中文 Retinitis pigmentosa treatment Retinitis pigmentosa eyewiki Non syndromic retinitis pigmentosa Retinitis pigmentosa OCT Prognosis of retinitis pigmentosa Retinitis pigmentosa gene test Retinitis pigmentosa onset FeNO asthma “康美”非電力取出圈刃(未滅菌) EUDAMED 註冊 nitrile gloves belgium y型輸血套管使用 acromed catalog 路提 睡眠呼吸中止症與睡眠品質檢測函式庫 實驗室品管
Retinal dystrophies | 合法醫療器材資訊網
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Retinal dystrophy | 合法醫療器材資訊網
Retinal dystrophies are chronic and progressive disorders of visual function. 'Dystrophy' is the degeneration of tissue, due to disease or malnutrition, ... Read More
Pigmentary retinal dystrophy and the syndrome of maternally ... | 合法醫療器材資訊網
由 PR Smith 著作 · 1999 · 被引用 89 次 — In conclusion, pigmentary retinal dystrophy is frequently associated with the MIDD syndrome and the A3243G mutation. Perimacular pigmentation and areas of ... Read More
Pigmentary retinal dystrophy - Conditions | 合法醫療器材資訊網
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait ... Read More
Retinal Dystrophies and the Road to Treatment | 合法醫療器材資訊網
由 M Talib 著作 · 2020 · 被引用 4 次 — The most common form of macular dystrophy, Stargardt disease, ... and is not associated with symptoms or pigmentary retinal changes. Read More
Pigmentary retinal dystrophy and the syndrome of ... | 合法醫療器材資訊網
由 PR Smith 著作 · 1999 · 被引用 89 次 — Conclusions: Abnormalities of retinal pigmentation are common in subjects with maternally inherited diabetes and deafness caused by the mitochondrial DNA A3243G ... Read More
Pigmentary retinal dystrophy associated with pigmentary ... | 合法醫療器材資訊網
由 FC Piccolino 著作 · 1989 · 被引用 20 次 — Two young brothers were bilaterally affected by pigmentary glaucoma and extensive symmetrical changes of the retinal pigment epithelium (RPE). Read More
Retinal dystrophies | 合法醫療器材資訊網
Retinal dystrophies are a heterogeneous group of hereditary diseases that cause progressive and severe loss of vision by altering the anatomy and/or function of ... Read More
Retinitis pigmentosa | 合法醫療器材資訊網
Genetics[edit] ... Retinitis pigmentosa (RP) is one of the most common forms of inherited retinal degeneration. ... There are multiple genes that, when mutated, can ... Read More
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