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. 2025 Mar 18;18(3):557-561.
doi: 10.18240/ijo.2025.03.24. eCollection 2025.

Angle closure glaucoma in a patient with X-linked retinoschisis: a case report

Lu Yao  1   2   3 , Ye Lu  1   2 , Kang-Yi Yang  1   2 , Kun Lyu  1   2 , Zong-Yi Wang  1   2 , Lyu-Zhen Huang  1   2 , Hui-Juan Wu  1   2
Affiliations

Angle closure glaucoma in a patient with X-linked retinoschisis: a case report

Lu Yao et al. Int J Ophthalmol. .
No abstract available

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Conflict of interest statement

Conflicts of Interest: Yao L, None; Lu Y, None; Yang KY, None; Lyu K, None; Wang ZY, None; Huang LZ, None; Wu HJ, None.

Figures

Figure 1
Figure 1. Fundus photograph and macular lutea scans of the patient 9 years ago using optical coherence tomography
A, B: Fundus images of right and left eyes separately; C, D: Macular lutea scans of right and left eyes using optical coherence tomography.
Figure 2
Figure 2. Ultrasound biomicroscope, gonioscopy, retinal nerve fiber zone around optic papilla and perimeter results
A, B: Ultrasound biomicroscope images of right and left eyes indicated a closed angle in the anterior chamber; C, D: Gonioscopy prism examination of right and left eyes at the inferior quadrant; E: Retinal nerve fibre zone around the optic nerve papilla measured by spectral domain optical coherence tomography; F: Perimeter testing results of left and right eyes.
Figure 3
Figure 3. Series of fundus examinations of right and left eyes
A, B: Fundus photographs; C, D: Macular lutea scans using spectral domain optic coherence tomography; E, F: The peripheral retina scans using spectral domain optic coherence tomography; G, H: Ocular autofluorescence captures; I, J: Fluorescein angiography visualizations.
Figure 4
Figure 4. Sanger sequencing analysis was employed to pinpoint the family's lineage and the mutation
A: In the family tree, those with X-linked retinoschisis are marked by solid symbols, while clinically unaffected individuals are represented by hollow circles or squares. The figures below the symbols denote the sibship numbers for each person. The arrow points to the index case within the family (II-1). B: Characteristic sequence traces are presented for II-1 (hemizygous for the mutation), I-2 (heterozygous mutation carrier), I-1 (unmutated type), and II-2 (unmutated type). The RS1 gene reference is NM_000330.
See this image and copyright information in PMC

References

    1. Grigg JR, Hooper CY, Fraser CL, et al. Outcome measures in juvenile X-linked retinoschisis: a systematic review. Eye (Lond) 2020;34(10):1760–1769. - PMC - PubMed
    1. Hahn LC, van Schooneveld MJ, Wesseling NL, et al. X-linked retinoschisis: novel clinical observations and genetic spectrum in 340 patients. Ophthalmology. 2022;129(2):191–202. - PubMed
    1. Pennesi ME, Birch DG, Jayasundera KT, et al. Prospective evaluation of patients with X-linked retinoschisis during 18 months. Invest Ophthalmol Vis Sci. 2018;59(15):5941–5956. - PMC - PubMed
    1. Pimenides D, George ND, Yates JR, et al. X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet. 2005;42(6):e35. - PMC - PubMed
    1. Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012;31(3):195–212. - PMC - PubMed

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