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CASE REPORT
Year : 2020  |  Volume : 58  |  Issue : 4  |  Page : 302-303

Ocular manifestations of homocystinuria due to cystathionine beta-synthase deficiency: A rare case report with genetic analysis


1 Department of Strabismus and Pediatric Ophthalmology, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
2 Department of Vitreo-Retina, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
3 Department of Ophthalmology, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
4 Department of Oculoplasty and Community Ophthalmology, Sri Sankaradeva Nethralaya, Guwahati, Assam, India

Correspondence Address:
Dr. Saurabh Deshmukh
Department of Vitreo.Retina, Sri Sankaradeva Nethralaya, Guwahati, Assam
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_86_20

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Microspherophakia is a developmental lens anomaly characterized by increased anteroposterior diameter and reduced equatorial diameter, which predisposes to secondary glaucoma. A 12-year-old boy presented with diminution of vision. Slit-lamp examination showed anteriorly dislocated crystalline lens. Blood analysis revealed elevated homocysteine levels. Genetic analysis showed cystathionine beta-synthase gene mutation, thus confirming the diagnosis of homocystinuria. To prevent secondary glaucoma, the patient was taken up for surgical intervention. This report highlights a case of homocystinuria with microspherophakia diagnosed with the help of genetic testing.


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