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Fig. 1 | BMC Ophthalmology

Fig. 1

From: Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa

Fig. 1

Pedigree, clinic, and genetic evaluations of the JH family. A Pedigree of family JH. Solid symbols, affected individuals; open symbols, unaffected individuals; arrow, proband; slash, deceased persons; + , wild-type; M, the heterozygous mutation c.284 T > C (p.L95P) in the RHO gene; *, the family members available for the present study; B-C Fundus photograph of two eyes; D-E Optical coherence tomography detected obviously thinned and disorganized outer structure of the retina in two eyes; F-G Constricted visual fields of two eyes. H Sanger sequencing showing heterozygous c.284 T > C mutation in III:2 (patient) and IV:1 (unaffected) respectively. Abbreviation: Het., heterozygous

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BMC Ophthalmology

ISSN: 1471-2415

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