| CASE REPORT |
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| Year : 2020 | Volume
: 58
| Issue : 4 | Page : 302-303 |
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Ocular manifestations of homocystinuria due to cystathionine beta-synthase deficiency: A rare case report with genetic analysis
Damaris Magdalene1, Ronel Soibam2, Riddhi Raichura3, Saurabh Deshmukh2, Surpriya Hawaibam4, Krati Gupta3
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
 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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