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Article

LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells.

Journal of human genetics - 1 Aug 2018

Kawamura Yuichi, Suga Akiko, Fujimaki Takuro, Yoshitake Kazutoshi, Tsunoda Kazushige, Murakami Akira, Iwata Takeshi

Abstract excerpt

The macula is a unique structure in higher primates, where cone and rod photoreceptors show highest density in the fovea and the surrounding area, respectively. The hereditary macular dystrophies represent a heterozygous group of rare disorders characterized by central visual loss and atrophy of the macula and surrounding retina. Here we report an atypical absence of ON-type bipolar cell response in a Japanese...

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PMID: 29760528
DOI: 10.1038/s10038-018-0465-4

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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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