Congenital Bilateral Cataracts Associated with CRYBA1: A Familial Case Report Highlighting Genetic Diagnosis, Surgical Management, and Lifelong Glaucoma Surveillance
5 affiliations
- 1School of Medicine, University of Maryland, Baltimore, MD 21201, USA
- 2Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA
- 3Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan
- 4Department of Biochemistry and Biotechnology, University of Science and Technology Chittagong, Chittagong 4202, Bangladesh
- 5Department of Ophthalmology and Visual Sciences, School of Medicine, University of Maryland, Baltimore, MD 21201, USA
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.
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BibTeX
@article{ahmed2026congenital,
title = {{Congenital Bilateral Cataracts Associated with CRYBA1: A Familial Case Report Highlighting Genetic Diagnosis, Surgical Management, and Lifelong Glaucoma Surveillance}},
author = {Mariya R. Ahmed and Tehmeena Akhter and Firoz Kabir and Christina Kilby and Andrew Nguyen and Osamah J. Saeedi and Janet Leath Alexander},
journal = {International Journal of Molecular Sciences},
year = {2026},
month = nov,
doi = {10.3390/ijms27219978},
url = {https://www.mdpi.com/1422-0067/27/21/9978},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Congenital Bilateral Cataracts Associated with CRYBA1: A Familial Case Report Highlighting Genetic Diagnosis, Surgical Management, and Lifelong Glaucoma Surveillance
AU - Mariya R. Ahmed
AU - Tehmeena Akhter
AU - Firoz Kabir
AU - Christina Kilby
AU - Andrew Nguyen
AU - Osamah J. Saeedi
AU - Janet Leath Alexander
PY - 2026
DA - 2026/11/07
JO - International Journal of Molecular Sciences
DO - 10.3390/ijms27219978
UR - https://www.mdpi.com/1422-0067/27/21/9978
AB - 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.
SN - 1422-0067
ER -