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R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.

Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, Wang N, Liu N - Mol. Vis. (2010)

Bottom Line: Five affected males showed large peripheral retinoschisis in both eyes, either involving the macula or combined with foveal stellate cystic change.Visual acuity of affected individuals ranged from hand motion to 0.4.The R213W mutation in exon 6 of RS1 was identified in all affected individuals, predicting an amino acid substitution of arginine to tryptophan at codon 213.

View Article: PubMed Central - PubMed

Affiliation: Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.

ABSTRACT

Purpose: We identified a large Chinese family with X-linked juvenile retinoschisis. The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene.

Methods: Family history was collected and all family members underwent routine ophthalmic examination. Venous blood was collected from family members and genomic DNA was extracted. The exons of RS1 were screened by PCR followed by direct sequencing and/or restriction enzyme digestion.

Results: The pedigree of interest was a four-generation family with 52 family members, including seven affected individuals. The proband was a 5-year-old boy showing highly elevated bullous retinoschisis with moderate vitreous hemorrhage in both eyes. Vitrectomy was performed in the left eye of the proband. Five affected males showed large peripheral retinoschisis in both eyes, either involving the macula or combined with foveal stellate cystic change. One of the affected family members showed only a foveal stellate cystic change in both eyes without periphery retinoschisis. Visual acuity of affected individuals ranged from hand motion to 0.4. The R213W mutation in exon 6 of RS1 was identified in all affected individuals, predicting an amino acid substitution of arginine to tryptophan at codon 213.

Conclusions: Our data show that the R213W mutation in RS1 causes various severities of retinoschisis in a large Chinese family, providing further evidence for X-linked juvenile retinoschisis phenotypic variability.

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Related in: MedlinePlus

Photographs for the proband (III-14) of the family with X-linked juvenile retinoschisis. A: Fundus photograph of the right eye. B: Fundus photograph of the left eye. C: Slit-lamp photograph showing a membrane with blood vessels behind the lens. D: Ultrasonography of the right eye and left eye. E: Fundus photograph of the left eye after vitrectomy.
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f2: Photographs for the proband (III-14) of the family with X-linked juvenile retinoschisis. A: Fundus photograph of the right eye. B: Fundus photograph of the left eye. C: Slit-lamp photograph showing a membrane with blood vessels behind the lens. D: Ultrasonography of the right eye and left eye. E: Fundus photograph of the left eye after vitrectomy.

Mentions: The 5-year-old proband (III-14) was initially referred to the Beijing Tongren Hospital after progressive vision loss for the preceding 3 years and appearance of a “white pupil” in both eyes. On examination his visual acuity was 0.05 in the right eye and hand motion in the left eye. No evidence of squint or nystagmus was observed. Cornea, anterior chamber, iris, pupil, and lens were normal in both eyes. Severe vitreous scar tissue formation and moderate vitreous hemorrhage were noticed in both eyes (Figure 2A,B). On slit-lamp biomicroscopy a membrane with blood vessels was observed just behind the lens in his left eye (Figure 2C). Ultrasonography revealed echogenic bands in the vitreous extending from the posterior surface of the lens to the optic nerve in both eyes (Figure 2D). The elder brother (III-13) of the proband was a 7-year-old boy. His vision was noticed to be poor in both eyes when he was 4 years old. At the time of examination, his visual acuity was 0.1 in the right eye and 0.05 in the left. No squint or nystagmus was observed. Anterior segments of both eyes were normal. Fundus examination showed a foveal stellate cystic change and a large retinoschisis in the upper temporal retina of the right eye (Figure 3A). In his left eye, a large temporal retinoschisis involved the macula (Figure 3B). The parents (II-6, II-7) of the proband did not show any noticeable ocular abnormalities.


R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.

Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, Wang N, Liu N - Mol. Vis. (2010)

Photographs for the proband (III-14) of the family with X-linked juvenile retinoschisis. A: Fundus photograph of the right eye. B: Fundus photograph of the left eye. C: Slit-lamp photograph showing a membrane with blood vessels behind the lens. D: Ultrasonography of the right eye and left eye. E: Fundus photograph of the left eye after vitrectomy.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2927431&req=5

f2: Photographs for the proband (III-14) of the family with X-linked juvenile retinoschisis. A: Fundus photograph of the right eye. B: Fundus photograph of the left eye. C: Slit-lamp photograph showing a membrane with blood vessels behind the lens. D: Ultrasonography of the right eye and left eye. E: Fundus photograph of the left eye after vitrectomy.
Mentions: The 5-year-old proband (III-14) was initially referred to the Beijing Tongren Hospital after progressive vision loss for the preceding 3 years and appearance of a “white pupil” in both eyes. On examination his visual acuity was 0.05 in the right eye and hand motion in the left eye. No evidence of squint or nystagmus was observed. Cornea, anterior chamber, iris, pupil, and lens were normal in both eyes. Severe vitreous scar tissue formation and moderate vitreous hemorrhage were noticed in both eyes (Figure 2A,B). On slit-lamp biomicroscopy a membrane with blood vessels was observed just behind the lens in his left eye (Figure 2C). Ultrasonography revealed echogenic bands in the vitreous extending from the posterior surface of the lens to the optic nerve in both eyes (Figure 2D). The elder brother (III-13) of the proband was a 7-year-old boy. His vision was noticed to be poor in both eyes when he was 4 years old. At the time of examination, his visual acuity was 0.1 in the right eye and 0.05 in the left. No squint or nystagmus was observed. Anterior segments of both eyes were normal. Fundus examination showed a foveal stellate cystic change and a large retinoschisis in the upper temporal retina of the right eye (Figure 3A). In his left eye, a large temporal retinoschisis involved the macula (Figure 3B). The parents (II-6, II-7) of the proband did not show any noticeable ocular abnormalities.

Bottom Line: Five affected males showed large peripheral retinoschisis in both eyes, either involving the macula or combined with foveal stellate cystic change.Visual acuity of affected individuals ranged from hand motion to 0.4.The R213W mutation in exon 6 of RS1 was identified in all affected individuals, predicting an amino acid substitution of arginine to tryptophan at codon 213.

View Article: PubMed Central - PubMed

Affiliation: Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.

ABSTRACT

Purpose: We identified a large Chinese family with X-linked juvenile retinoschisis. The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene.

Methods: Family history was collected and all family members underwent routine ophthalmic examination. Venous blood was collected from family members and genomic DNA was extracted. The exons of RS1 were screened by PCR followed by direct sequencing and/or restriction enzyme digestion.

Results: The pedigree of interest was a four-generation family with 52 family members, including seven affected individuals. The proband was a 5-year-old boy showing highly elevated bullous retinoschisis with moderate vitreous hemorrhage in both eyes. Vitrectomy was performed in the left eye of the proband. Five affected males showed large peripheral retinoschisis in both eyes, either involving the macula or combined with foveal stellate cystic change. One of the affected family members showed only a foveal stellate cystic change in both eyes without periphery retinoschisis. Visual acuity of affected individuals ranged from hand motion to 0.4. The R213W mutation in exon 6 of RS1 was identified in all affected individuals, predicting an amino acid substitution of arginine to tryptophan at codon 213.

Conclusions: Our data show that the R213W mutation in RS1 causes various severities of retinoschisis in a large Chinese family, providing further evidence for X-linked juvenile retinoschisis phenotypic variability.

Show MeSH
Related in: MedlinePlus