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Article

Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.

Molecular medicine reports - 1 Mar 2016

Piermarocchi Stefano, Segato Tatiana, Leon Alberta, Colavito Davide, Miotto Stefania

Abstract excerpt

Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence tomography (SD‑OCT). Mutations in the RP1L1 gene have been identified to be responsible for the disease in Asian subjects. The present study assessed the role of...

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Source

Identifiers

PMID: 26782618
DOI: 10.3892/mmr.2016.4784

Genes

OMD

Variants

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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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