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Connie J. Chen, Hendrik P. Scholl, David G. Birch, Takeshi Iwata, Neil R. Miller, Morton F. Goldberg; Characterizing the Phenotype and Genotype of Families with Occult Macular Dystrophy. Invest. Ophthalmol. Vis. Sci. 2012;53(14):5203.
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© ARVO (1962-2015); The Authors (2016-present)
OMD is a rare macular dystrophy with central cone dysfunction hidden behind a normal fundus appearance that is attributed to a mutation in RP1L1 gene in Japanese families with autosomal dominant inheritance. We characterized the phenotype of affected Caucasian patients with OMD and clinically unaffected family members and determined if similar mutations were present in the RP1L1 gene in these families.
Observational cross-sectional study of two Caucasian families with OMD. Patients meeting the clinical criteria for OMD and their family members were evaluated with mfERG, Farnsworth D-15 color test, automated perimetry, SD-OCT, fundus autofluorescence, and fundus photography. Fluorescein angiography was performed only on probands. Members of these families were screened for genetic mutations in the RP1L1 gene by sequencing the entire gene.
Two clinically affected probands were noted to have loss of the foveal outer segments and absence of bowing of the inner segment-outer segment junction on SD-OCT. Additionally, one clinically unaffected family member in each kindred demonstrated loss of the foveal photoreceptor outer segments, and therefore, decreased bowing of the inner segment-outer segment junction on SD-OCT. Fundus autofluorescence images were normal in all probands and their family members.
Loss of the outer segments of foveal photoreceptors can be detected and quantified by SD-OCT in patients with OMD. Similar findings are present in some clinically unaffected family members and may represent subclinical manifestations of the disease. Although mutations in the RP1L1 gene have been described in several Japanese families with autosomal dominant OMD, there were no such mutations in these two families. This could be consistent with non-autosomal dominant inheritance or autosomal dominant inheritance with incomplete penetrance or variable expressivity.
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