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Article

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports.

Journal of medical case reports - 2 Jun 2023

Xiao Yi-Shuang, He Wen-Ji, Jiang Hong-Chao, Tan Li, Ma Jing, Zhang Zhen

Abstract excerpt

BACKGROUND: Retinitis pigmentosa is a group of rare hereditary retinal dystrophy diseases that lead to difficulty seeing at night, progressive loss of peripheral field vision (tunnel vision), and eventual loss of central vision. However, a genetic cause cannot be determined in approximately 60% of cases. CASE PRESENTATION: Two non-consanguineous Yi minority ethnic group families who have a 6.4-year-old boy and a...

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Identifiers

PMID: 37264419
DOI: 10.1186/s13256-023-03830-3
PMCID: PMC10236786

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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