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The British Journal of Ophthalmology logoLink to The British Journal of Ophthalmology
letter
. 2001 Feb;85(2):238–239. doi: 10.1136/bjo.85.2.238

Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks

Y HOTTA, M NAKAMURA, Y OKAMOTO, R NOMURA, H TERASAKI, Y MIYAKE
PMCID: PMC1723857  PMID: 11225572

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Figure 1  .

Figure 1  

Genotype of four cases. (a, b) Pedigrees of cases 1, 2, and 4. Solid symbols indicate retinoschisis patients; open symbols, unaffected family members. Arrows indicate proband and Xs indicate examined cases. (a) III-1 and III-2 correspond to cases 1 and 2, respectively. (b) III-4 corresponds to case 4. Both pedigrees showed X linked inheritance pattern. (c-f) Nucleotide sequences of the XLRS1 gene using sense primer in four patients with retinoschisis. Arrows indicate the position of the mutation. (c) Case 1, hemizygotic mutant (Glu72Lys). (d) Case 2, hemizygotic mutant (Glu72Lys). (e) Case 3, hemizygotic mutant (Glu72Lys). (f) Case 4, hemizygotic mutant (Arg200Cys).

Figure 2  .

Figure 2  

Posterior pole in the four cases. (a) Right eye of case 1. (b) Right eye of case 2. (c) Left eye of case 3. (d) Left eye of case 4. All cases showed foveal schisis. Cases 1, 3, and 4 showed retinal white flecks.


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