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A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.

Kabuto T, Takahashi H, Goto-Fukuura Y, Igarashi T, Akahori M, Kameya S, Iwata T, Mizota A, Yamaki K, Miyake Y, Takahashi H - Mol. Vis. (2012)

Bottom Line: The variant c.3596 C>G in exon 4 resulted in the substitution of cysteine for serine at amino acid position 1199.The serine at position 1199 is well conserved among the RP1L1 family in other species.We have demonstrated in a Japanese patient the possibility that sporadic OMD may also be caused by an RP1L1 mutation.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba, Japan.

ABSTRACT

Purpose: To determine whether a mutation in the RP1-like protein 1 (RP1L1) gene is present in a Japanese patient with sporadic occult macular dystrophy (OMD) and to examine the characteristics of focal macular electroretinograms (ERGs) of the patient with genetically identified OMD.

Methods: An individual with OMD underwent detailed ophthalmic clinical evaluations including focal macular ERGs. Mutation screening of all coding regions and flanking intron sequences of the RP1L1 gene were performed with DNA sequencing analysis in this case with OMD.

Results: A new RP1L1 mutation (c.3596 C>G in exon 4) was identified. The variant c.3596 C>G in exon 4 resulted in the substitution of cysteine for serine at amino acid position 1199. The serine at position 1199 is well conserved among the RP1L1 family in other species. Four out of five computational assessment tools predicted that this mutation is damaging to the protein function. This mutation was not present in 294 control alleles. The waveform of focal macular ERGs recorded from the patient with OMD had a depolarizing pattern, simulating the ERG waveforms observed after the hyperpolarizing bipolar cell activity is blocked.

Conclusions: We have demonstrated in a Japanese patient the possibility that sporadic OMD may also be caused by an RP1L1 mutation. The waveform of focal macular ERGs elicited from the OMD patient with the RP1L1 mutation showed a depolarizing pattern. This characteristic is the same as reported for the focal macular ERGs of OMD.

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Related in: MedlinePlus

Spectral-domain optical coherence tomography (SD-OCT) findings of the eyes in normal controls (A, B) and in this case (C-F). Images from right eyes (C, D) and left eyes (E, F) are shown. Images at lower magnification (A, C, E) and higher magnification (B, D, F) are shown. The SD-OCT findings for the eyes in this case show obvious blurring of the IS/OS junction and the COST line. The COST line disappeared in the peripheral macula area in this case.
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f3: Spectral-domain optical coherence tomography (SD-OCT) findings of the eyes in normal controls (A, B) and in this case (C-F). Images from right eyes (C, D) and left eyes (E, F) are shown. Images at lower magnification (A, C, E) and higher magnification (B, D, F) are shown. The SD-OCT findings for the eyes in this case show obvious blurring of the IS/OS junction and the COST line. The COST line disappeared in the peripheral macula area in this case.

Mentions: The SD-OCT images of this case showed a blurred IS/OS junction and COST line at the foveal center (Figure 3D,F). In the peripheral macula area, the COST line was absent, and only the blurred IS/OS junction was visible in this case (Figure 3C,E).


A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.

Kabuto T, Takahashi H, Goto-Fukuura Y, Igarashi T, Akahori M, Kameya S, Iwata T, Mizota A, Yamaki K, Miyake Y, Takahashi H - Mol. Vis. (2012)

Spectral-domain optical coherence tomography (SD-OCT) findings of the eyes in normal controls (A, B) and in this case (C-F). Images from right eyes (C, D) and left eyes (E, F) are shown. Images at lower magnification (A, C, E) and higher magnification (B, D, F) are shown. The SD-OCT findings for the eyes in this case show obvious blurring of the IS/OS junction and the COST line. The COST line disappeared in the peripheral macula area in this case.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3351429&req=5

f3: Spectral-domain optical coherence tomography (SD-OCT) findings of the eyes in normal controls (A, B) and in this case (C-F). Images from right eyes (C, D) and left eyes (E, F) are shown. Images at lower magnification (A, C, E) and higher magnification (B, D, F) are shown. The SD-OCT findings for the eyes in this case show obvious blurring of the IS/OS junction and the COST line. The COST line disappeared in the peripheral macula area in this case.
Mentions: The SD-OCT images of this case showed a blurred IS/OS junction and COST line at the foveal center (Figure 3D,F). In the peripheral macula area, the COST line was absent, and only the blurred IS/OS junction was visible in this case (Figure 3C,E).

Bottom Line: The variant c.3596 C>G in exon 4 resulted in the substitution of cysteine for serine at amino acid position 1199.The serine at position 1199 is well conserved among the RP1L1 family in other species.We have demonstrated in a Japanese patient the possibility that sporadic OMD may also be caused by an RP1L1 mutation.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba, Japan.

ABSTRACT

Purpose: To determine whether a mutation in the RP1-like protein 1 (RP1L1) gene is present in a Japanese patient with sporadic occult macular dystrophy (OMD) and to examine the characteristics of focal macular electroretinograms (ERGs) of the patient with genetically identified OMD.

Methods: An individual with OMD underwent detailed ophthalmic clinical evaluations including focal macular ERGs. Mutation screening of all coding regions and flanking intron sequences of the RP1L1 gene were performed with DNA sequencing analysis in this case with OMD.

Results: A new RP1L1 mutation (c.3596 C>G in exon 4) was identified. The variant c.3596 C>G in exon 4 resulted in the substitution of cysteine for serine at amino acid position 1199. The serine at position 1199 is well conserved among the RP1L1 family in other species. Four out of five computational assessment tools predicted that this mutation is damaging to the protein function. This mutation was not present in 294 control alleles. The waveform of focal macular ERGs recorded from the patient with OMD had a depolarizing pattern, simulating the ERG waveforms observed after the hyperpolarizing bipolar cell activity is blocked.

Conclusions: We have demonstrated in a Japanese patient the possibility that sporadic OMD may also be caused by an RP1L1 mutation. The waveform of focal macular ERGs elicited from the OMD patient with the RP1L1 mutation showed a depolarizing pattern. This characteristic is the same as reported for the focal macular ERGs of OMD.

Show MeSH
Related in: MedlinePlus