Issue 6/2022
V. Boyanov1, L. Boyanova2, P. Vasileva1
1 Ophthalmology Hospital “Akad. Pashev – Sofia, 2 Department of Microbiology, Medical University Sofia
Introduction: X-linked retinoschisis, a subtype of macular degenerations, is a rare genetic condition with prevalence 1:15:000 to 1:30 000 cases worldwide. It affects predominantly males and manifests with impaired vision. Condition is caused by point mutation in RS1 gene, which encode retinoschisin, a protein responsible for cell-to-cell adhesion.
Purpose: To present four clinical cases of Х-linked retinoschisis and to discuss potential methods of treatment: medication, surgery and gene therapy.
Methods of examination and diagnosis: Family history, examination of visual acuity, fundus documentation and fluorescence, computer perimetry, optical coherence tomography, electoretinogram, genetic consultation and evaluation.
Clinical cases: 1) 9 years old male. At the age of six impaired vision and amblyopia were stated during routine medical examination. At the age of eight he was referred to specialized ophthalmology diagnostic techniques and genetic laboratory tests. Missense mutation in RS1 gene was established thus confirming the diagnosis. Carbonic anhydrase inhibitor was prescribed as therapy.
2) 28 year old male. At the age of 19 amblyopia was suggested during routine examination. At the age of 26 he visited our hospital with decreased visual acuity and we detected cystoid macular edema in both eyes. The patient is directed to genetic tests.
3) Brothers aged respectively 23 and 20 with complains of impaired vision. It was established cystoid macular edema with unclear etiology. They were referred for genetic tests that confirmed diagnosis.
Conclusion: In case of signs of macular disease in children, leading to impaired vision they should be referred for specialized ophthalmology diagnostic techniques. It is necessary in order to determine the diagnosis and to start conservative treatment making patients candidates for potential future gene therapy.
Address for correspondence:
V. Boyanov
Specialized Eye Hospital for Active Treatment
“Acad. Pashev” Sofia
51, Em. Vaskikovich, Str.
1517, Sofia, Bulgaria
е-mail: vvaasskkooo@abv.bg