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

Molecular Medicine Reports
Stefano PiermarocchiStefania Miotto

Abstract

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 mutations in the RP1L1 gene in an Italian family with OMD. One patient with OMD and five related subjects (two male offspring affected by progressive visual decline and three asymptomatic siblings of the patient) were subjected to complete ophthalmological examination. SD‑OCT was also performed. All subjects were screened for OMD‑associated genetic mutations in the RP1L1 gene. The OMD patient and the two symptomatic offspring presented with a reduced best‑corrected visual acuity. Although no fundus abnormalities were observed, SD‑OCT examination showed that the external limiting membrane and the inner segment/outer segment band were not clearly identifiable and a focal disruption of the photoreceptor layer was present. The degree of photoreceptor alterations was correlated with the severity of visual impairment. Clinic...Continue Reading

References

Nov 1, 1992·Archives of Ophthalmology·G P MatthewsE L Berson
Sep 15, 1989·American Journal of Ophthalmology·Y MiyakeY Kawase
Nov 1, 1996·American Journal of Ophthalmology·Y MiyakeH Terasaki
Feb 28, 2006·Documenta Ophthalmologica. Advances in Ophthalmology·Jonathan S Lyons
Aug 7, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Tetsuji YamashitaJian Zuo
Feb 19, 2010·Investigative Ophthalmology & Visual Science·Sang Jun ParkHum Chung
Sep 10, 2010·American Journal of Human Genetics·Masakazu AkahoriTakeshi Iwata
Sep 7, 2013·JAMA Ophthalmology·Seong Joon AhnSe Joon Woo

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Citations

Dec 14, 2019·Ophthalmic Genetics·Maan Abdullah AlbarrySulman Basit

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