Article
Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy.
Investigative ophthalmology & visual science - 1 Dec 2017
Kato Yu, Hanazono Gen, Fujinami Kaoru, Hatase Tetsuhisa, Kawamura Yuichi, Iwata Takeshi, Miyake Yozo, Tsunoda Kazushige
Abstract excerpt
Purpose: To report the clinical characteristics of asymptomatic cases with RP1L1 gene mutations in four families with occult macular dystrophy (OMD). Methods: Four asymptomatic cases from four families were selected from a cohort of 40 subjects (16 families) with RP1L1 pathogenic variants. Clinical data of the four asymptomatic cases and three symptomatic patients in the same families were reviewed. The three...
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