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ArticleMolecular genetics & genomic medicine2026

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients.

Kristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva-Krasteva, Kalina Mihova, Yoanna Kaneva, Reni Tzveova, Martin Georgiev, Delyan Georgiev, Ivanka Dimova, Alexander Oscar and 1 more

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Article in Molecular genetics & genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Kristiyana VitanovaGenome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.ORCID https://orcid.org/0009-0002-8630-7136
Kunka KamenarovaGenome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.
Nevyana Veleva-KrastevaClinic of Eye Diseases, University Hospital "Aleksandrovska", Sofia, Bulgaria.
Kalina MihovaGenome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.
Yoanna KanevaClinic of Eye Diseases, University Hospital "Aleksandrovska", Sofia, Bulgaria.
Reni TzveovaInstitute of Experimental Morphology, Pathology, and Anthropology With Museum, Bulgarian Academy of Science, Sofia, Bulgaria.
Martin GeorgievGenome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.
Delyan GeorgievGenome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.
Ivanka DimovaGenome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.
Alexander OscarClinic of Eye Diseases, University Hospital "Aleksandrovska", Sofia, Bulgaria.
Radka KanevaGenome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.

Funding

Medical University of Sofia, Bulgaria D-111/04.06.2021Ministry of Education and Science D01-147/2025Ministry of Education and Science D01-257/2025Ministry of Education and Science D01-371/2023Ministry of Education and Science D-285/2019Ministry of Education and Science D-395-2020National Science Fund of the Bulgarian Ministry of Education and Science KP-06-N33/12/18.12.2019
6 · The paper itself

Abstract

backgroundInherited forms of cataract are a clinically important and genetically heterogeneous cause of visual impairment, usually present at an early age. Both syndromic and non-syndromic congenital cataracts exhibit all modes of inheritance and may occur in association with various ocular or systemic abnormalities. Early diagnosis and treatment are crucial for the visual prognosis.

methodsWe applied next-generation sequencing (NGS) of clinical exome for identification of the disease-causing variants in a group of seven Bulgarian patients with syndromic and non-syndromic cataracts, accompanied by glaucoma with variable anterior segment defects and other ocular phenotypes.

resultsSystematic filtering pipelines coupled with copy number variation analysis and segregation studies led to the identification of four pathogenic/likely pathogenic changes and two variants of uncertain significance (VUS), three of which were newly found. Candidate disease-causing variants in the CRYAA, CRYBB1, MYH9, RP2, CLNC1, and CACNA1S genes were found, which allowed the establishment of a precise genetic diagnosis of all of the studied pedigrees.

conclusionOur results confirm the usefulness of a targeted NGS approach based on clinical exome analysis as a comprehensive genetic diagnostic tool for syndromic and isolated cataracts with a significant impact on patient counseling.

Indexed as

CataractPhenotypeBulgariaChildEye ProteinsFemaleHigh-Throughput Nucleotide SequencingHumansMaleMutationPedigreeEye Proteinsgenetic variantsinherited cataractsnext‐generation sequencingocular phenotypes

Identifiers

PMID42360812
PMCPMC13308658

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