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. 2012:6:301-3.
doi: 10.4172/1747-0862.1000053. Epub 2012 Dec 12.

Mutation of SPATA7 in a family with autosomal recessive early-onset retinitis pigmentosa

Chitra Kannabiran  1 , Lakshmi Palavalli, Subhadra Jalali
Affiliations

Mutation of SPATA7 in a family with autosomal recessive early-onset retinitis pigmentosa

Chitra Kannabiran et al. J Mol Genet Med. 2012.
No abstract available

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Conflict of interest statement

None declared.

Figures

Figure 1.
Figure 1.
Pedigree of the family screened for SPATA7 mutation. Individuals available for the study are marked with asterisks. Shaded symbols denote affected and clear symbols denote unaffected individuals. Slashes across symbols denote deceased individuals.
Figure 2.
Figure 2.
Fundus photomontage of right eye of proband showing typical features of bilateral retinitis pigmentosa including disc pallor, peripheral bone corpuscular pigment migration, severe arterial attenuation, vitreous changes causing grade 1 haze in media, and diffuse retinal pigment epithelial (RPE) degeneration giving a grayish hue to the retina with relative sparing of central macular area.
See this image and copyright information in PMC

References

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    1. Kannabiran C, Singh H, Sahini N, et al. Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. Mol Vis. 2012;18:1165–1174. - PMC - PubMed
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    1. Wang H, den Hollander AI, Maoyedi Y, et al. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet. 2009;84:380–387. - PMC - PubMed

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