[HTML][HTML] Retinal dystrophies and the road to treatment: clinical requirements and considerations
M Talib, CJF Boon - Asia-Pacific Journal of Ophthalmology, 2020 - Elsevier
Retinal dystrophies (RDs) comprise relatively rare but devastating causes of progressive
vision loss. They represent a spectrum of diseases with marked genetic and clinical
heterogeneity. Mutations in the same gene may lead to different diagnoses, for example,
retinitis pigmentosa or cone dystrophy. Conversely, mutations in different genes may lead to
the same phenotype. The age at symptom onset, and the rate and characteristics of
peripheral and central vision decline, may vary widely per disease group and even within …
vision loss. They represent a spectrum of diseases with marked genetic and clinical
heterogeneity. Mutations in the same gene may lead to different diagnoses, for example,
retinitis pigmentosa or cone dystrophy. Conversely, mutations in different genes may lead to
the same phenotype. The age at symptom onset, and the rate and characteristics of
peripheral and central vision decline, may vary widely per disease group and even within …
