A novel mutation in MERTK for rod-cone dystrophy in a North Indian family

To identify the underlying genetic defect of childhood-onset severe rod-cone dystrophy (RCD) in a consanguineous family from North India with autosomal recessive retinitis pigmentosa. A detailed family history, clinical data, and blood samples were collected from 11 members of the family, including...

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Veröffentlicht in:	Canadian journal of ophthalmology 2019-02, Vol.54 (1), p.40-50
Hauptverfasser:	Bhatia, Sofia, Kaur, Navdeep, Singh, Indu R., Vanita, Vanita
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult c-Mer Tyrosine Kinase - genetics c-Mer Tyrosine Kinase - metabolism Cone-Rod Dystrophies - diagnosis Cone-Rod Dystrophies - genetics Cone-Rod Dystrophies - metabolism DNA - metabolism DNA Mutational Analysis Electroretinography Female Humans India Male Middle Aged Mutation Retinal Pigment Epithelium - pathology Visual Acuity Young Adult
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