<abstract xmlns="http://www.w3.org/1999/xhtml">

<bold>Aim:</bold> To present a rare clinical case of X-linked retinoschisis, confirmed clinically, electrophysiologically and genetically.
<bold>Material and methods:</bold> A 12-year-old boy underwent detailed ophthalmic examination including fundus photography, full-field, multifocal and pattern electroretinography, visual field testing, optical coherence tomography, which established the clinical diagnosis, confirmed also genetically.
<bold>Results:</bold> The clinical findings included a slight loss of vision, central and paracentral scotomas, a characteristic spoke-wheel pattern appearance of the macula in fundoscopy and the pathognomic appearance of splitting of the retinal layers in the macula with foveal schisis with cystic spaces on OCT. Reduced cone and rod ERG responds were detected with the characteristic decreasing of b-ware near the isoelectric line. The genetic analysis found that the patient was hemizygous for the missense mutation c.598G>A (p.Arg200Cys) of RS1 gene, coming from his asymptomatic mother.
<bold>Conclusion:</bold> The comprehensive clinical, electrophysiological and genetic testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis and the choice of therapeutic approach.
</abstract>

Aim: To present a rare clinical case of X-linked retinoschisis, confirmed clinically, electrophysiologically and genetically.
Material and methods: A 12-year-old boy underwent detailed ophthalmic examination including fundus photography, full-field, multifocal and pattern electroretinography, visual field testing, optical coherence tomography, which established the clinical diagnosis, confirmed also genetically.
Results: The clinical findings included a slight loss of vision, central and paracentral scotomas, a characteristic spoke-wheel pattern appearance of the macula in fundoscopy and the pathognomic appearance of splitting of the retinal layers in the macula with foveal schisis with cystic spaces on OCT. Reduced cone and rod ERG responds were detected with the characteristic decreasing of b-ware near the isoelectric line. The genetic analysis found that the patient was hemizygous for the missense mutation c.598G>A (p.Arg200Cys) of RS1 gene, coming from his asymptomatic mother.
Conclusion: The comprehensive clinical, electrophysiological and genetic testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis and the choice of therapeutic approach.

A Rare Case of Juvenile X-Linked Retinoschisis

„Lozenetz“ University Hospital, Medical Faculty, Sofia University „Sv. Kliment Ohridski“ – Sofia

Acta Medica Bulgarica

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

{"article-title":"A Rare Case of Juvenile X-Linked Retinoschisis"}

Aim: To present a rare clinical case of X-linked retinoschisis, confirmed clinically, electrophysiologically and genetically.
Material and methods: A...

A Rare Case of Juvenile X-Linked Retinoschisis

Publicado en línea: 20 nov 2021

Páginas: 28 - 32

Recibido: 18 abr 2021

Aceptado: 11 jul 2021

DOI: https://doi.org/10.2478/amb-2021-0045

Palabras clave
hereditary retinal dystrophy, X-linked retinoschisis, electrophysiology, genetics

© 2021 E. Mermeklieva et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

A Rare Case of Juvenile X-Linked Retinoschisis

Publicado en línea: 20 nov 2021

Páginas: 28 - 32

Recibido: 18 abr 2021

Aceptado: 11 jul 2021

DOI: https://doi.org/10.2478/amb-2021-0045

Palabras clavehereditary retinal dystrophy, X-linked retinoschisis, electrophysiology, genetics

© 2021 E. Mermeklieva et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Palabras clave
hereditary retinal dystrophy, X-linked retinoschisis, electrophysiology, genetics