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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

Full-field electroretinograms (ERGs) recorded according to the International Society for Clinical Electrophysiology of Vision (ISCEV) standards protocol in this case. The rod, combined rod-cone, cone, oscillatory potentials, and 30-Hz flicker full-field ERGs are shown. The results of full-field ERGs are within the normal limits in this case.
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f2: Full-field electroretinograms (ERGs) recorded according to the International Society for Clinical Electrophysiology of Vision (ISCEV) standards protocol in this case. The rod, combined rod-cone, cone, oscillatory potentials, and 30-Hz flicker full-field ERGs are shown. The results of full-field ERGs are within the normal limits in this case.

Mentions: A 52-year-old woman complained of a gradual decrease in vision in both eyes during the past two to three years. Family history revealed no other members with any eye diseases, including her parents who were deceased. Her BCVAs were 20/63 in the right eye and 20/50 in the left eye. The fundus examination, fluorescein angiography, and full-field ERG results were within the normal limits (Figure 1A-D and Figure 2). The visual fields were full with the Goldman perimetry, but a relative central scotoma was detected in both eyes with the Humphrey Visual Field Analyzer.


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)

Full-field electroretinograms (ERGs) recorded according to the International Society for Clinical Electrophysiology of Vision (ISCEV) standards protocol in this case. The rod, combined rod-cone, cone, oscillatory potentials, and 30-Hz flicker full-field ERGs are shown. The results of full-field ERGs are within the normal limits in this case.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f2: Full-field electroretinograms (ERGs) recorded according to the International Society for Clinical Electrophysiology of Vision (ISCEV) standards protocol in this case. The rod, combined rod-cone, cone, oscillatory potentials, and 30-Hz flicker full-field ERGs are shown. The results of full-field ERGs are within the normal limits in this case.
Mentions: A 52-year-old woman complained of a gradual decrease in vision in both eyes during the past two to three years. Family history revealed no other members with any eye diseases, including her parents who were deceased. Her BCVAs were 20/63 in the right eye and 20/50 in the left eye. The fundus examination, fluorescein angiography, and full-field ERG results were within the normal limits (Figure 1A-D and Figure 2). The visual fields were full with the Goldman perimetry, but a relative central scotoma was detected in both eyes with the Humphrey Visual Field Analyzer.

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