{
  "abstract": "Congenital cataracts are an important cause of childhood visual impairment and require timely treatment to preserve visual development. Their management includes surgical removal of visually significant lens opacities, prompt optical rehabilitation, and lifelong surveillance for complications such as glaucoma and strabismus. We report a male infant with dense bilateral congenital cataracts and a multigenerational maternal history of congenital cataracts. Exome sequencing identified a heterozygous CRYBA1 variant, NM_005208.5:c.272_274del, p.(Gly91del), which was confirmed by Sanger sequencing in the proband and his affected mother. Gly91 is highly conserved, and structural modeling places the residue within a beta/gamma-crystallin Greek-key domain, where its deletion is predicted to disturb local protein folding and stability. The infant underwent sequential bilateral cataract extraction one week apart, and his aphakia was managed with contact lenses followed by spectacles. Infrequent intermittent esotropia was observed during follow-up, but no elevation of intraocular pressure or evidence of optic nerve damage was detected. At 3 years 7 months of age, best-corrected visual acuity with aphakic spectacles was 20/50 in each eye and 20/20 binocularly. The mother, who had undergone cataract surgery during infancy, subsequently developed advanced glaucoma of both eyes with marked retinal nerve fiber layer thinning. This case demonstrates the value of integrating molecular diagnosis with timely surgical treatment, optical rehabilitation, and long-term postoperative surveillance. Identification of the familial CRYBA1 variant confirmed the molecular diagnosis and supports genetic counseling, while the mother’s clinical course underscores the need for lifelong glaucoma monitoring following congenital cataract surgery.",
  "abstract_shown": true,
  "affiliations": [
    "School of Medicine, University of Maryland, Baltimore, MD 21201, USA",
    "Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA",
    "Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan",
    "Department of Biochemistry and Biotechnology, University of Science and Technology Chittagong, Chittagong 4202, Bangladesh",
    "Department of Ophthalmology and Visual Sciences, School of Medicine, University of Maryland, Baltimore, MD 21201, USA"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Mariya R. Ahmed"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Tehmeena Akhter",
      "orcid": "0009-0003-9691-2097"
    },
    {
      "affs": [
        1,
        3
      ],
      "name": "Firoz Kabir"
    },
    {
      "affs": [
        0
      ],
      "name": "Christina Kilby"
    },
    {
      "affs": [
        4
      ],
      "name": "Andrew Nguyen",
      "orcid": "0000-0001-9916-8927"
    },
    {
      "affs": [
        4
      ],
      "name": "Osamah J. Saeedi",
      "orcid": "0000-0002-3082-4604"
    },
    {
      "affs": [
        0,
        4
      ],
      "name": "Janet Leath Alexander"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/arhepdxd53q93.bib",
  "cited_by": 0,
  "doi": "10.3390/ijms27219978",
  "fulltext_url": null,
  "id": "arhepdxd53q93",
  "issns": [
    "1422-0067"
  ],
  "landing_url": "https://www.mdpi.com/1422-0067/27/21/9978",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [],
  "openalex": null,
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-11-07",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/arhepdxd53q93.ris",
  "sources": [
    {
      "first_seen": "2026-11-10T00:21:27Z",
      "native_id": "10.3390/ijms27219978",
      "source": "crossref",
      "url": "https://www.mdpi.com/1422-0067/27/21/9978"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "issn:1422-0067",
      "subfield": "general"
    }
  ],
  "title": "Congenital Bilateral Cataracts Associated with CRYBA1: A Familial Case Report Highlighting Genetic Diagnosis, Surgical Management, and Lifelong Glaucoma Surveillance",
  "title_text": "Congenital Bilateral Cataracts Associated with CRYBA1: A Familial Case Report Highlighting Genetic Diagnosis, Surgical Management, and Lifelong Glaucoma Surveillance",
  "type": "peer-reviewed",
  "updated_at": "2026-11-10T00:21:27Z",
  "url": "https://research.draconitic.com/paper/arhepdxd53q93",
  "venue": "International Journal of Molecular Sciences",
  "versions": []
}